Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The attempt to improve the PHENOTYPES of future generations of the human population by fostering the reproduction of those with favorable phenotypes and GENOTYPES and hampering or preventing BREEDING by those with "undesirable" phenotypes and genotypes. The concept is largely discredited. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.
Genetic diseases that are linked to mutant ALLELES on the Y CHROMOSOME in humans (Y CHROMOSOME, HUMAN) or the Y chromosome in other species. Included here are animal models of human Y-linked diseases.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.
An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
A chloride channel that regulates secretion in many exocrine tissues. Abnormalities in the CFTR gene have been shown to cause cystic fibrosis. (Hum Genet 1994;93(4):364-8)
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
The religion of the Jews characterized by belief in one God and in the mission of the Jews to teach the Fatherhood of God as revealed in the Hebrew Scriptures. (Webster, 3d ed)
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Any method used for determining the location of and relative distances between genes on a chromosome.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Genes that influence the PHENOTYPE only in the homozygous state.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The branch of mathematics dealing with the purely logical properties of probability. Its theorems underlie most statistical methods. (Last, A Dictionary of Epidemiology, 2d ed)
A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.
An mRNA metabolic process that distinguishes a normal STOP CODON from a premature stop codon (NONSENSE CODON) and facilitates rapid degradation of aberrant mRNAs containing premature stop codons.
A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
A technique which uses synthetic oligonucleotides to direct the cell's inherent DNA repair system to correct a mutation at a specific site in an episome or chromosome.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Biochemical identification of mutational changes in a nucleotide sequence.
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
The introduction of functional (usually cloned) GENES into cells. A variety of techniques and naturally occurring processes are used for the gene transfer such as cell hybridization, LIPOSOMES or microcell-mediated gene transfer, ELECTROPORATION, chromosome-mediated gene transfer, TRANSFECTION, and GENETIC TRANSDUCTION. Gene transfer may result in genetically transformed cells and individual organisms.
Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Identification of genetic carriers for a given trait.
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
An individual having different alleles at one or more loci regarding a specific character.
Storage-stable blood coagulation factor acting in the intrinsic pathway. Its activated form, IXa, forms a complex with factor VIII and calcium on platelet factor 3 to activate factor X to Xa. Deficiency of factor IX results in HEMOPHILIA B (Christmas Disease).
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)
Pathological conditions resulting from abnormal anabolism or catabolism of lipids in the body.
Genotypic differences observed among individuals in a population.
A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
A genus of the family PARVOVIRIDAE, subfamily PARVOVIRINAE, which are dependent on a coinfection with helper adenoviruses or herpesviruses for their efficient replication. The type species is Adeno-associated virus 2.
A characteristic symptom complex.
Databases devoted to knowledge about specific genes and gene products.
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
Established cell cultures that have the potential to propagate indefinitely.
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.
An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).
A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). It is derived from the 7SL RNA component of the SIGNAL RECOGNITION PARTICLE and contains an RNA polymerase III promoter. Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases.
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
An individual in which both alleles at a given locus are identical.
Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
Malformations of organs or body parts during development in utero.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
The magnitude of INBREEDING in humans.
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
A strain of mice widely studied as a model for cystic fibrosis. These mice are generated from embryonic stem cells in which the CFTR (cystic fibrosis transmembrane conductance regulator) gene is inactivated by gene targeting. As a result, all mice have one copy of this altered gene in all their tissues. Mice homozygous for the disrupted gene exhibit many features common to young cystic fibrosis patients, including failure to thrive, meconium ileus, and alteration of mucous and serous glands.
Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.
The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
A subgroup of TRP cation channels that are widely expressed in various cell types. Defects are associated with POLYCYSTIC KIDNEY DISEASES.
Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the aminoacyl bond connecting the completed polypeptide to the tRNA. Terminator codons do not specify amino acids.
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
Sequential operating programs and data which instruct the functioning of a digital computer.
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
The systematic study of the complete DNA sequences (GENOME) of organisms.
A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
Storage-stable glycoprotein blood coagulation factor that can be activated to factor Xa by both the intrinsic and extrinsic pathways. A deficiency of factor X, sometimes called Stuart-Prower factor deficiency, may lead to a systemic coagulation disorder.
A multifunctional pyridoxal phosphate enzyme. In the second stage of cysteine biosynthesis it catalyzes the reaction of homocysteine with serine to form cystathionine with the elimination of water. Deficiency of this enzyme leads to HYPERHOMOCYSTEINEMIA and HOMOCYSTINURIA. EC 4.2.1.22.
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
A protein found most abundantly in the nervous system. Defects or deficiencies in this protein are associated with NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome. Mutations in the gene (GENE, NEUROFIBROMATOSIS 1) affect two known functions: regulation of ras-GTPase and tumor suppression.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.
A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.
The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
Databases containing information about NUCLEIC ACIDS such as BASE SEQUENCE; SNPS; NUCLEIC ACID CONFORMATION; and other properties. Information about the DNA fragments kept in a GENE LIBRARY or GENOMIC LIBRARY is often maintained in DNA databases.
The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.
A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
Mapping of the KARYOTYPE of a cell.
Deletion of sequences of nucleic acids from the genetic material of an individual.
Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Glycosylated compounds in which there is an amino substituent on the glycoside. Some of them are clinically important ANTIBIOTICS.
The principles of professional conduct concerning the rights and duties of the physician, relations with patients and fellow practitioners, as well as actions of the physician in patient care and interpersonal relations with patient families.
An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE, tetrahydrobiopterin, and oxygen. Deficiency of this enzyme may cause PHENYLKETONURIAS and PHENYLKETONURIA, MATERNAL. EC 1.14.16.1.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
An infant during the first month after birth.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
A process whereby multiple RNA transcripts are generated from a single gene. Alternative splicing involves the splicing together of other possible sets of EXONS during the processing of some, but not all, transcripts of the gene. Thus a particular exon may be connected to any one of several alternative exons to form a mature RNA. The alternative forms of mature MESSENGER RNA produce PROTEIN ISOFORMS in which one part of the isoforms is common while the other parts are different.
Disorders of the blood and blood forming tissues.
The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.
Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
Graphs representing sets of measurable, non-covalent physical contacts with specific PROTEINS in living organisms or in cells.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the probe include the radioisotope labels 32P and 125I and the chemical label biotin.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
Polymers made up of a few (2-20) nucleotides. In molecular genetics, they refer to a short sequence synthesized to match a region where a mutation is known to occur, and then used as a probe (OLIGONUCLEOTIDE PROBES). (Dorland, 28th ed)
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed)
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
Cells from adult organisms that have been reprogrammed into a pluripotential state similar to that of EMBRYONIC STEM CELLS.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A social group consisting of parents or parent substitutes and children.
The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.

MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. (1/527)

BACKGROUND: Patients with Opitz GBBB syndrome present with a variable array of developmental defects including craniofacial, cardiac, and genital anomalies. Mutations in the X-linked MID1 gene, which encodes a microtubule-binding protein, have been found in approximately 50% of Opitz GBBB syndrome patients consistent with the genetically heterogeneous nature of the disorder. A protein highly related to MID1, called MID2, has also been described that similarly associates with microtubules. RESULTS: To identify protein partners of MID1 and MID2 we undertook two separate yeast two-hybrid screens. Using this system we identified Alpha 4, a regulatory subunit of PP2-type phosphatases and a key component of the rapamycin-sensitive signaling pathway, as a strong interactor of both proteins. Analysis of domain-specific deletions has shown that the B-boxes of both MID1 and MID2 mediate the interaction with Alpha 4, the first demonstration in an RBCC protein of a specific role for the B-box region. In addition, we show that the MID1/2 coiled-coil motifs mediate both homo- and hetero-dimerisation, and that dimerisation is a prerequisite for association of the MID-Alpha 4 complex with microtubules. CONCLUSIONS: Our findings not only implicate Alpha 4 in the pathogenesis of Opitz GBBB syndrome but also support our earlier hypothesis that MID2 is a modifier of the X-linked phenotype. Of further note is the observation that Alpha 4 maps to Xq13 within the region showing linkage to FG (Opitz-Kaveggia) syndrome. Overlap in the clinical features of FG and Opitz GBBB syndromes warrants investigation of Alpha 4 as a candidate for causing FG syndrome.  (+info)

Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndrome. (2/527)

We describe a 10-month-old boy diagnosed with X-linked hyper-IgM syndrome (XHIM) after suffering from life-threatening acute respiratory distress syndrome (ARDS) caused by Pneumocystis carinii pneumonia (PCP), although his previous clinical history and first level laboratory tests investigating immunological function did not indicate immunodeficiency. When the patient's overall condition was good, elective bone marrow transplantation from an HLA-matched older brother was performed successfully. We describe how correct diagnosis and successful treatment were made possible thanks to the involvement of a network of specialists.  (+info)

Selective growth advantage of wild-type lymphocytes in X-linked SCID recipients. (3/527)

The cytokine receptor common gamma chain (gamma c) plays a pivotal role in multiple interleukin signaling, and gamma c gene mutations cause an X-linked form of SCID (X-SCID). Recently, gamma c gene transfer into the autologous X-SCID BM achieved appreciable lymphocyte reconstitution, contrasting with the limited success in previous gene therapy trials targeting hematopoietic stem cells. To understand the mechanisms underlying this success, we examined the repopulating potential of the wild-type (WT) BM cells using an X-SCID mouse model. Limited numbers of WT cells were infused into non-ablated WT and X-SCID hosts. Whereas no appreciable engraftment was observed in WT recipients, donor-derived lymphocytes repopulated well in X-SCID, reaching 37% (10(6)cells given) and 53% (10(7) cells given) of the normal control value 5 months post BMT. A lineage analysis showed a predominance of the donor-derived lymphocytes (CD4(+) T, CD8(+) T, B and NK cells) in X-SCID while the donor-derived granulocytes and monocytes engrafted poorly. These results showed a selective advantage of WT cells in X-SCID, and that the advantage was restricted to lymphocytes. In human gene therapy for X-SCID, an analogous growth advantage would greatly enhance the repopulation of lymphocytes derived from a very small number of gamma c gene-supplemented precursors.  (+info)

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. (4/527)

X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinic acid synthase (ALAS2) gene. Hemizygous males have microcytic anemia and iron overload. A 38-year-old male presented with this phenotype (hemoglobin [Hb] 7.6 g/dL, mean corpuscular volume [MCV] 64 fL, serum ferritin 859 microg/L), and molecular analysis of ALAS2 showed a mutation 1731G>A predicting an Arg560His amino acid change. A 36-year-old brother was hemizygous for this mutation and expressed the mutated ALAS2 mRNA in his reticulocytes, but showed almost no phenotypic expression. All 5 heterozygous females from this family, including the 3 daughters of the nonanemic hemizygous male, showed marginally increased red-cell distribution width (RDW). Although variable penetrance for XLSA in males has been previously described, this is the first report showing that phenotypic expression can be absent in hemizygous males. This observation is relevant to genetic counseling, emphasizing the importance of gene-based diagnosis.  (+info)

Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia. (5/527)

The sideroblastic anemias are characterized by ring sideroblasts, that is, red cell precursors with mitochondrial iron accumulation. We therefore studied the expression of mitochondrial ferritin (MtF) in these conditions. Erythroid cells from 13 patients with refractory anemia with ring sideroblasts (RARS) and 3 patients with X-linked sideroblastic anemia (XLSA) were analyzed for the distribution of cytoplasmic H ferritin (HF) and MtF using immunocytochemical methods. We also studied 11 healthy controls, 5 patients with refractory anemia without ring sideroblasts (RA), and 7 patients with RA with excess of blasts (RAEB). About one fourth of normal immature red cells, mostly proerythroblasts and basophilic erythroblasts, showed diffuse cytoplasmic positivity for HF, but very few were positive for MtF (0%-10%). Similar patterns were found in anemic patients without ring sideroblasts. In contrast, many erythroblasts from patients with sideroblastic anemia (82%-90% in XLSA and 36%-84% in RARS) were positive for MtF, which regularly appeared as granules ringing the nucleus. Double immunocytochemical staining confirmed the different cellular distribution of HF and MtF. There was a highly significant relationship between the percentage of MtF(+) erythroblasts and that of ring sideroblasts (Spearman R = 0.90; P <.0001). Reverse transcription-polymerase chain reaction studies demonstrated the presence of MtF mRNA in circulating reticulocytes of 2 patients with XLSA but not in controls. These findings suggest that most of the iron deposited in perinuclear mitochondria of ring sideroblasts is present in the form of MtF and that this latter might be a specific marker of sideroblastic anemia.  (+info)

Is any form of gender selection ethical? (6/527)

In later years, sex selection has become of importance for prevention of X-linked diseases in families at risk. There is today a potential to perform sperm selection before fertilization by taking advantage of the chromosomal heterogamy of spermatozoa, and before implantation by preimplantation genetic diagnosis (PGD). The methods of sex determination by separating sperrmatozoa are, in our opinion, still not safe enough for routine clinical use. Apart from the technical problems and possible associated risks, which first must be better evaluated, the most critical questions are ethical or legal. We support the use of sex selection by PGD in X-linked severe disease, but due to the potential risks of misuse, we are not prepared to support a more liberal attitude as long as the discriminated sex in nearly all parts of the world are women.  (+info)

Analysis of sex chromosomes in preimplantation genetic diagnosis for X-chromosome-linked disorders. (7/527)

Preimplantation genetic diagnosis (PGD) is diagnostic tool to avoid inheritance of genetic disease by transferring unaffected embryos. Recently, PCR and FISH have been mainly applied to the diagnosis of single gene disorders and chromosomal abnormalities, respectively. Since with PGD, only a few cells are available for genetic tests, both gene and chromosomes analysis have to be obtained from the same, limited material. Cell recycling makes it possible to obtain the information on genes as well as chromosomes from the same cells. Therefore cell recycling is an acceptable strategy where in PGD targets large proportions of embryos severe chromosomal abnormalities. The responsible genes of the X-linked disorder and numerical abnormalities of sex chromosomes should be analyzed simultaneously. Gender information is definitely useful because only male affected embryos should be avoided for transfer.  (+info)

Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene. (8/527)

Mutations in the TBX22 gene have been identified recently in patients with the X-linked cleft palate and ankyloglossia syndrome, suggesting that the TBX22 transcription factor plays an important role in palate development. However, because ankyloglossia has been reported in the majority of patients with TBX22 mutations, it has been speculated that the cleft palate phenotype is secondary to defective fetal tongue movement. To understand the role of TBX22 in disease pathogenesis and in normal development, it is necessary to carry out a detailed temporal and spatial gene expression analysis. We report here the isolation and developmental expression analysis of the mouse homolog Tbx22. The mouse Tbx22 gene encodes a putative protein of 517 amino acid residues, which shares 72% overall amino acid sequence identity with the human TBX22 protein. By using interspecific backcross analysis, we have localized the Tbx22 gene to mouse chromosome X, in a region syntenic to human chromosome Xq21, where the TBX22 gene resides, indicating that Tbx22 is the ortholog of human TBX22. Our in situ hybridization analysis shows that Tbx22 is expressed in a temporally and spatially highly restricted pattern during mouse palate and tongue development. Together with the mutant phenotypes in human patients, our data indicate a primary role for Tbx22 in both palate and tongue development.  (+info)

Inborn genetic diseases, also known as inherited genetic disorders, are conditions caused by abnormalities in an individual's DNA that are present at conception. These abnormalities can include mutations, deletions, or rearrangements of genes or chromosomes. In many cases, these genetic changes are inherited from one or both parents and may be passed down through families.

Inborn genetic diseases can affect any part of the body and can cause a wide range of symptoms, which can vary in severity depending on the specific disorder. Some genetic disorders are caused by mutations in a single gene, while others are caused by changes in multiple genes or chromosomes. In some cases, environmental factors may also contribute to the development of these conditions.

Examples of inborn genetic diseases include cystic fibrosis, sickle cell anemia, Huntington's disease, Duchenne muscular dystrophy, and Down syndrome. These conditions can have significant impacts on an individual's health and quality of life, and many require ongoing medical management and treatment. In some cases, genetic counseling and testing may be recommended for individuals with a family history of a particular genetic disorder to help them make informed decisions about their reproductive options.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Eugenics is a scientific movement that advocates for the improvement of human genetic qualities through various measures such as controlled breeding, selective immigration, and even forced sterilization. The goal of eugenics is to increase the number of individuals who possess desirable traits and decrease the number of those with undesirable traits in order to improve the overall genetic makeup of the population.

The term "eugenics" was coined by Sir Francis Galton, a British scientist, in 1883. He believed that intelligence and other positive traits were heritable and could be improved through selective breeding. The eugenics movement gained popularity in the early 20th century, particularly in the United States and Germany, where it was used to justify forced sterilization and other coercive measures aimed at controlling the reproduction of certain groups of people.

Today, the concept of eugenics is widely discredited due to its association with discrimination, racism, and human rights abuses. However, the principles of genetics and heredity that underlie eugenics continue to be studied and applied in fields such as medicine and agriculture.

Medical genetics is the branch of medicine that involves the study of inherited conditions and diseases, as well as the way they are passed down through families. It combines elements of clinical evaluation, laboratory testing, and genetic counseling to help diagnose, manage, and prevent genetic disorders. Medical genetics also includes the study of genetic variation and its role in contributing to both rare and common diseases. Additionally, it encompasses the use of genetic information for pharmacological decision making (pharmacogenomics) and reproductive decision making (preimplantation genetic diagnosis, prenatal testing).

Genetic diseases, Y-linked, refer to a very rare class of genetic disorders that are passed down from father to son via the Y chromosome. These conditions affect only males and are characterized by their pattern of inheritance, which is strictly paternal. This means that the trait or disorder is transmitted directly from the father's Y chromosome to his sons through the process of genetic reproduction.

Since women do not carry a Y chromosome, they cannot inherit these conditions nor pass them on to their offspring. However, women who are carriers of a Y-linked genetic disease may still transmit other forms of genetic disorders to their children if those traits are carried on autosomal or X chromosomes.

Examples of Y-linked genetic diseases include some types of color blindness and certain rare metabolic disorders. It is important to note that the number of known Y-linked genetic diseases is relatively small compared to other forms of inherited disorders, due in part to the limited amount of genetic material contained within the Y chromosome.

A rare disease, also known as an orphan disease, is a health condition that affects fewer than 200,000 people in the United States or fewer than 1 in 2,000 people in Europe. There are over 7,000 rare diseases identified, and many of them are severe, chronic, and often life-threatening. The causes of rare diseases can be genetic, infectious, environmental, or degenerative. Due to their rarity, research on rare diseases is often underfunded, and treatments may not be available or well-studied. Additionally, the diagnosis of rare diseases can be challenging due to a lack of awareness and understanding among healthcare professionals.

A human genome is the complete set of genetic information contained within the 23 pairs of chromosomes found in the nucleus of most human cells. It includes all of the genes, which are segments of DNA that contain the instructions for making proteins, as well as non-coding regions of DNA that regulate gene expression and provide structural support to the chromosomes.

The human genome contains approximately 3 billion base pairs of DNA and is estimated to contain around 20,000-25,000 protein-coding genes. The sequencing of the human genome was completed in 2003 as part of the Human Genome Project, which has had a profound impact on our understanding of human biology, disease, and evolution.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

A disease is a condition that impairs normal functioning and causes harm to the body. It is typically characterized by a specific set of symptoms and may be caused by genetic, environmental, or infectious agents. A disease can also be described as a disorder of structure or function in an organism that produces specific signs or symptoms. Diseases can range from minor ones, like the common cold, to serious illnesses, such as heart disease or cancer. They can also be acute, with a sudden onset and short duration, or chronic, lasting for a long period of time. Ultimately, a disease is any deviation from normal homeostasis that causes harm to an organism.

Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system. It is caused by mutations in the CFTR gene, which regulates the movement of salt and water in and out of cells. When this gene is not functioning properly, thick, sticky mucus builds up in various organs, leading to a range of symptoms.

In the lungs, this mucus can clog the airways, making it difficult to breathe and increasing the risk of lung infections. Over time, lung damage can occur, which may lead to respiratory failure. In the digestive system, the thick mucus can prevent the release of digestive enzymes from the pancreas, impairing nutrient absorption and leading to malnutrition. CF can also affect the reproductive system, liver, and other organs.

Symptoms of cystic fibrosis may include persistent coughing, wheezing, lung infections, difficulty gaining weight, greasy stools, and frequent greasy diarrhea. The severity of the disease can vary significantly among individuals, depending on the specific genetic mutations they have inherited.

Currently, there is no cure for cystic fibrosis, but treatments are available to help manage symptoms and slow the progression of the disease. These may include airway clearance techniques, medications to thin mucus, antibiotics to treat infections, enzyme replacement therapy, and a high-calorie, high-fat diet. Lung transplantation is an option for some individuals with advanced lung disease.

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is a protein that functions as a chloride channel in the membranes of various cells, including those in the lungs and pancreas. Mutations in the gene encoding CFTR can lead to Cystic Fibrosis, a genetic disorder characterized by thick, sticky mucus in the lungs and other organs, leading to severe respiratory and digestive problems.

CFTR is normally activated by cyclic AMP-dependent protein kinase (PKA) and regulates the movement of chloride ions across cell membranes. In Cystic Fibrosis, mutations in CFTR can result in impaired channel function or reduced amounts of functional CFTR at the cell surface, leading to an imbalance in ion transport and fluid homeostasis. This can cause the production of thick, sticky mucus that clogs the airways and leads to chronic lung infections, as well as other symptoms associated with Cystic Fibrosis.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

Genetic counseling is a process of communication and education between a healthcare professional and an individual or family, aimed at understanding, adapting to, and managing the medical, psychological, and familial implications of genetic contributions to disease. This includes providing information about the risk of inherited conditions, explaining the implications of test results, discussing reproductive options, and offering support and resources for coping with a genetic condition. Genetic counselors are trained healthcare professionals who specialize in helping people understand genetic information and its impact on their health and lives.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Genetic therapy, also known as gene therapy, is a medical intervention that involves the use of genetic material, such as DNA or RNA, to treat or prevent diseases. It works by introducing functional genes into cells to replace missing or faulty ones caused by genetic disorders or mutations. The introduced gene is incorporated into the recipient's genome, allowing for the production of a therapeutic protein that can help manage the disease symptoms or even cure the condition.

There are several approaches to genetic therapy, including:

1. Replacing a faulty gene with a healthy one
2. Inactivating or "silencing" a dysfunctional gene causing a disease
3. Introducing a new gene into the body to help fight off a disease, such as cancer

Genetic therapy holds great promise for treating various genetic disorders, including cystic fibrosis, muscular dystrophy, hemophilia, and certain types of cancer. However, it is still an evolving field with many challenges, such as efficient gene delivery, potential immune responses, and ensuring the safety and long-term effectiveness of the therapy.

Genetic models are theoretical frameworks used in genetics to describe and explain the inheritance patterns and genetic architecture of traits, diseases, or phenomena. These models are based on mathematical equations and statistical methods that incorporate information about gene frequencies, modes of inheritance, and the effects of environmental factors. They can be used to predict the probability of certain genetic outcomes, to understand the genetic basis of complex traits, and to inform medical management and treatment decisions.

There are several types of genetic models, including:

1. Mendelian models: These models describe the inheritance patterns of simple genetic traits that follow Mendel's laws of segregation and independent assortment. Examples include autosomal dominant, autosomal recessive, and X-linked inheritance.
2. Complex trait models: These models describe the inheritance patterns of complex traits that are influenced by multiple genes and environmental factors. Examples include heart disease, diabetes, and cancer.
3. Population genetics models: These models describe the distribution and frequency of genetic variants within populations over time. They can be used to study evolutionary processes, such as natural selection and genetic drift.
4. Quantitative genetics models: These models describe the relationship between genetic variation and phenotypic variation in continuous traits, such as height or IQ. They can be used to estimate heritability and to identify quantitative trait loci (QTLs) that contribute to trait variation.
5. Statistical genetics models: These models use statistical methods to analyze genetic data and infer the presence of genetic associations or linkage. They can be used to identify genetic risk factors for diseases or traits.

Overall, genetic models are essential tools in genetics research and medical genetics, as they allow researchers to make predictions about genetic outcomes, test hypotheses about the genetic basis of traits and diseases, and develop strategies for prevention, diagnosis, and treatment.

I'm sorry for any confusion, but "Judaism" is not a medical term. It is a religion, ethnicity, and culture originating in the Judaea region of the Middle East. Judaism is based on the teachings of the Torah and the Talmud, and it includes various practices, beliefs, and traditions. If you have any questions about medical terminology or health-related topics, I would be happy to try to help answer those for you.

A nonsense codon is a sequence of three nucleotides in DNA or RNA that does not code for an amino acid. Instead, it signals the end of the protein-coding region of a gene and triggers the termination of translation, the process by which the genetic code is translated into a protein.

In DNA, the nonsense codons are UAA, UAG, and UGA, which are also known as "stop codons." When these codons are encountered during translation, they cause the release of the newly synthesized polypeptide chain from the ribosome, bringing the process of protein synthesis to a halt.

Nonsense mutations are changes in the DNA sequence that result in the appearance of a nonsense codon where an amino acid-coding codon used to be. These types of mutations can lead to premature termination of translation and the production of truncated, nonfunctional proteins, which can cause genetic diseases or contribute to cancer development.

Inborn errors of metabolism (IEM) refer to a group of genetic disorders caused by defects in enzymes or transporters that play a role in the body's metabolic processes. These disorders result in the accumulation or deficiency of specific chemicals within the body, which can lead to various clinical manifestations, such as developmental delay, intellectual disability, seizures, organ damage, and in some cases, death.

Examples of IEM include phenylketonuria (PKU), maple syrup urine disease (MSUD), galactosemia, and glycogen storage diseases, among many others. These disorders are typically inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.

Early diagnosis and management of IEM are crucial to prevent or minimize complications and improve outcomes. Treatment options may include dietary modifications, supplementation with missing enzymes or cofactors, medication, and in some cases, stem cell transplantation or gene therapy.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

I'm sorry for any confusion, but "Probability Theory" is actually a branch of mathematics, not medicine. It provides a formal framework for quantifying and reasoning about uncertainty. It involves concepts such as random variables, probability distributions, expected values, and statistical inferences. While it is widely used in many scientific fields, including medical research, it is not a medical term itself.

The Human Genome Project (HGP) is a large-scale international scientific research effort to determine the base pair sequence of the entire human genome, reveal the locations of every gene, and map all of the genetic components associated with inherited diseases. The project was completed in 2003, two years ahead of its original schedule.

The HGP has significantly advanced our understanding of human genetics, enabled the identification of genetic variations associated with common and complex diseases, and paved the way for personalized medicine. It has also provided a valuable resource for biological and medical research, as well as for forensic science and other applications.

Nonsense-mediated mRNA decay (NMD) is a cellular surveillance mechanism that degrades abnormal messenger RNAs (mRNAs) containing premature termination codons (PTCs) to prevent the production of potentially harmful truncated proteins. This process helps maintain the fidelity and integrity of gene expression.

In eukaryotic cells, NMD is initiated when the ribosome encounters a PTC during translation, which is typically located more than 50-55 nucleotides upstream of an exon-exon junction. This distinctive arrangement triggers the recruitment of specific protein factors that mark the mRNA for degradation in the cytoplasm.

NMD plays a crucial role in maintaining the normal function of cells and has been implicated in various physiological processes, including development, differentiation, and stress response. Moreover, defects in NMD have been associated with several human diseases, such as cancer, neurodevelopmental disorders, and genetic disorders caused by PTC-containing mRNAs.

Molecular biology is a branch of biology that deals with the structure, function, and organization of molecules involved in biological processes, especially informational molecules such as DNA, RNA, and proteins. It includes the study of molecular mechanisms of genetic inheritance, gene expression, protein synthesis, and cellular regulation. Molecular biology also involves the use of various experimental techniques to investigate and manipulate these molecules, including recombinant DNA technology, genomic sequencing, protein crystallography, and bioinformatics. The ultimate goal of molecular biology is to understand how biological systems work at a fundamental level and to apply this knowledge to improve human health and the environment.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Sphingolipidoses are a group of inherited metabolic disorders characterized by the accumulation of sphingolipids in various tissues and organs due to deficiencies in enzymes involved in sphingolipid metabolism. Sphingolipids are a type of lipid molecule that play important roles in cell membranes, signal transduction, and cell recognition.

Examples of sphingolipidoses include Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, Fabry disease, and Krabbe disease, among others. These disorders can affect various organs and systems in the body, including the brain, liver, spleen, bones, and nervous system, leading to a range of symptoms such as developmental delay, seizures, movement disorders, enlarged organs, and skin abnormalities.

Treatment for sphingolipidoses typically involves managing symptoms and addressing complications, although some forms of these disorders may be amenable to enzyme replacement therapy or stem cell transplantation.

Targeted gene repair, also known as genome editing or gene editing, is a medical technique that involves the use of engineered nucleases (enzymes that cut DNA) to introduce precise changes into the DNA of an organism or cell. These engineered nucleases include zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), and clustered regularly interspaced short palindromic repeats (CRISPR)-Cas systems.

In targeted gene repair, the engineered nuclease is directed to a specific location in the genome, where it creates a double-stranded break in the DNA. This break is then repaired by one of two natural cellular mechanisms: non-homologous end joining (NHEJ) or homology-directed repair (HDR). NHEJ is an error-prone process that can introduce random insertions or deletions (indels) at the site of the break, potentially disrupting gene function. HDR, on the other hand, uses a template to accurately repair the break and introduce specific changes into the genome.

Targeted gene repair has the potential to treat or cure genetic diseases by correcting the underlying genetic defects that cause them. It can also be used to modify the genomes of animals or plants for research or agricultural purposes. However, there are concerns about the potential risks and ethical implications of using this technology in humans, including the possibility of off-target effects and the long-term consequences of genetically modifying human germ cells (sperm or eggs).

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Fanconi anemia is a rare, inherited disorder that affects the body's ability to produce healthy blood cells. It is characterized by bone marrow failure, congenital abnormalities, and an increased risk of developing certain types of cancer. The condition is caused by mutations in genes responsible for repairing damaged DNA, leading to chromosomal instability and cell death.

The classic form of Fanconi anemia (type A) is typically diagnosed in childhood and is associated with various physical abnormalities such as short stature, skin pigmentation changes, thumb and radial ray anomalies, kidney and genitourinary malformations, and developmental delays. Other types of Fanconi anemia (B-G) may have different clinical presentations but share the common feature of bone marrow failure and cancer predisposition.

Bone marrow failure in Fanconi anemia results in decreased production of all three types of blood cells: red blood cells, white blood cells, and platelets. This can lead to anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). These conditions increase the risk of infections, fatigue, and bleeding.

Individuals with Fanconi anemia have a significantly higher risk of developing various types of cancer, particularly acute myeloid leukemia (AML) and solid tumors such as squamous cell carcinomas of the head, neck, esophagus, and anogenital region.

Treatment for Fanconi anemia typically involves managing symptoms related to bone marrow failure, such as transfusions, growth factors, and antibiotics. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for bone marrow failure but carries risks of its own, including graft-versus-host disease and transplant-related mortality. Regular cancer surveillance is essential due to the increased risk of malignancies in these patients.

Genetic techniques refer to a variety of methods and tools used in the field of genetics to study, manipulate, and understand genes and their functions. These techniques can be broadly categorized into those that allow for the identification and analysis of specific genes or genetic variations, and those that enable the manipulation of genes in order to understand their function or to modify them for therapeutic purposes.

Some examples of genetic analysis techniques include:

1. Polymerase Chain Reaction (PCR): a method used to amplify specific DNA sequences, allowing researchers to study small amounts of DNA.
2. Genome sequencing: the process of determining the complete DNA sequence of an organism's genome.
3. Genotyping: the process of identifying and analyzing genetic variations or mutations in an individual's DNA.
4. Linkage analysis: a method used to identify genetic loci associated with specific traits or diseases by studying patterns of inheritance within families.
5. Expression profiling: the measurement of gene expression levels in cells or tissues, often using microarray technology.

Some examples of genetic manipulation techniques include:

1. Gene editing: the use of tools such as CRISPR-Cas9 to modify specific genes or genetic sequences.
2. Gene therapy: the introduction of functional genes into cells or tissues to replace missing or nonfunctional genes.
3. Transgenic technology: the creation of genetically modified organisms (GMOs) by introducing foreign DNA into their genomes.
4. RNA interference (RNAi): the use of small RNA molecules to silence specific genes and study their function.
5. Induced pluripotent stem cells (iPSCs): the creation of stem cells from adult cells through genetic reprogramming, allowing for the study of development and disease in vitro.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

A genetic vector is a vehicle, often a plasmid or a virus, that is used to introduce foreign DNA into a host cell as part of genetic engineering or gene therapy techniques. The vector contains the desired gene or genes, along with regulatory elements such as promoters and enhancers, which are needed for the expression of the gene in the target cells.

The choice of vector depends on several factors, including the size of the DNA to be inserted, the type of cell to be targeted, and the efficiency of uptake and expression required. Commonly used vectors include plasmids, adenoviruses, retroviruses, and lentiviruses.

Plasmids are small circular DNA molecules that can replicate independently in bacteria. They are often used as cloning vectors to amplify and manipulate DNA fragments. Adenoviruses are double-stranded DNA viruses that infect a wide range of host cells, including human cells. They are commonly used as gene therapy vectors because they can efficiently transfer genes into both dividing and non-dividing cells.

Retroviruses and lentiviruses are RNA viruses that integrate their genetic material into the host cell's genome. This allows for stable expression of the transgene over time. Lentiviruses, a subclass of retroviruses, have the advantage of being able to infect non-dividing cells, making them useful for gene therapy applications in post-mitotic tissues such as neurons and muscle cells.

Overall, genetic vectors play a crucial role in modern molecular biology and medicine, enabling researchers to study gene function, develop new therapies, and modify organisms for various purposes.

Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.

Gene transfer techniques, also known as gene therapy, refer to medical procedures where genetic material is introduced into an individual's cells or tissues to treat or prevent diseases. This can be achieved through various methods:

1. **Viral Vectors**: The most common method uses modified viruses, such as adenoviruses, retroviruses, or lentiviruses, to carry the therapeutic gene into the target cells. The virus infects the cell and inserts the new gene into the cell's DNA.

2. **Non-Viral Vectors**: These include methods like electroporation (using electric fields to create pores in the cell membrane), gene guns (shooting gold particles coated with DNA into cells), or liposomes (tiny fatty bubbles that can enclose DNA).

3. **Direct Injection**: In some cases, the therapeutic gene can be directly injected into a specific tissue or organ.

The goal of gene transfer techniques is to supplement or replace a faulty gene with a healthy one, thereby correcting the genetic disorder. However, these techniques are still largely experimental and have their own set of challenges, including potential immune responses, issues with accurate targeting, and risks of mutations or cancer development.

Preimplantation Diagnosis (PID) is a genetic testing procedure performed on embryos created through in vitro fertilization (IVF), before they are implanted in the uterus. The purpose of PID is to identify genetic disorders or chromosomal abnormalities in the embryos, allowing only those free of such issues to be transferred to the uterus, thereby reducing the risk of passing on genetic diseases to offspring. It involves biopsying one or more cells from an embryo and analyzing its DNA for specific genetic disorders or chromosomal abnormalities. PID is often recommended for couples with a known history of genetic disorders or those who have experienced multiple miscarriages or failed IVF cycles.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:

1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.

Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Tay-Sachs Disease is a rare, inherited autosomal recessive disorder that affects the nervous system's functioning. It results from the deficiency of an enzyme called hexosaminidase A (Hex-A), which is necessary for breaking down gangliosides, a type of fatty substance found in nerve cells. When Hex-A is absent or insufficient, gangliosides accumulate abnormally in the nerve cells, leading to their progressive destruction and severe neurological deterioration.

The classic infantile form of Tay-Sachs Disease manifests within the first six months of life with symptoms such as loss of motor skills, seizures, paralysis, dementia, blindness, and eventually death, usually by age four. Late-onset forms of the disease also exist, which may present in childhood or adulthood with milder symptoms.

Tay-Sachs Disease is more prevalent among individuals of Ashkenazi Jewish, French Canadian, and Cajun descent. Genetic counseling and prenatal testing are recommended for couples at risk of passing on the disease.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that causes non-cancerous (benign) tumors to grow in many parts of the body. These tumors can affect the brain, skin, heart, kidneys, eyes, and lungs. The signs and symptoms of TSC can vary widely, depending on where the tumors develop and how severely a person is affected.

The condition is caused by mutations in either the TSC1 or TSC2 gene, which regulate a protein that helps control cell growth and division. When these genes are mutated, the protein is not produced correctly, leading to excessive cell growth and the development of tumors.

TSC is typically diagnosed based on clinical symptoms, medical imaging, and genetic testing. Treatment for TSC often involves a multidisciplinary approach, with specialists in neurology, dermatology, cardiology, nephrology, pulmonology, and ophthalmology working together to manage the various symptoms of the condition. Medications, surgery, and other therapies may be used to help control seizures, developmental delays, skin abnormalities, and other complications of TSC.

Trinucleotide repeats refer to a specific type of DNA sequence expansion where a particular trinucleotide (a sequence made up of three nucleotides) is repeated multiple times. In normal genomic DNA, these repeats are usually present in a relatively stable and consistent range. However, when the number of repeats exceeds a certain threshold, it can result in an unstable genetic variant known as a trinucleotide repeat expansion.

These expansions can occur in various genes and are associated with several neurogenetic disorders, such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The length of the trinucleotide repeat tends to expand further in subsequent generations, which can lead to anticipation – an earlier age of onset and increased severity of symptoms in successive generations.

The most common trinucleotide repeats involve CAG (cytosine-adenine-guanine) or CTG (cytosine-thymine-guanine) repeats, although other combinations like CGG, GAA, and GCT can also be involved. These repeat expansions can result in altered gene function, protein misfolding, aggregation, and toxicity, ultimately leading to the development of neurodegenerative diseases and other clinical manifestations.

Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle weakness and degeneration. It is caused by the absence of dystrophin, a protein that helps keep muscle cells intact. Without dystrophin, the muscle cells break down and are replaced with scar tissue, leading to loss of muscle function over time.

DMD primarily affects boys, as it is inherited in an X-linked recessive pattern, meaning that females who carry one affected X chromosome typically do not show symptoms but can pass the gene on to their offspring. Symptoms usually begin in early childhood and include difficulty with motor skills such as walking, running, and climbing stairs. Over time, the muscle weakness progresses and can lead to loss of ambulation, respiratory and cardiac complications, and ultimately, premature death.

Currently, there is no cure for DMD, but various treatments such as corticosteroids, physical therapy, and assisted ventilation can help manage symptoms and improve quality of life. Gene therapy approaches are also being investigated as potential treatments for this disorder.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Factor IX is also known as Christmas factor, which is a protein that plays a crucial role in the coagulation cascade, a series of chemical reactions that leads to the formation of a blood clot. It is one of the essential components required for the proper functioning of the body's natural blood-clotting mechanism.

Factor IX is synthesized in the liver and activated when it comes into contact with an injured blood vessel. Once activated, it collaborates with other factors to convert factor X to its active form, which then converts prothrombin to thrombin. Thrombin is responsible for converting fibrinogen to fibrin, forming a stable fibrin clot that helps stop bleeding and promote healing.

Deficiencies in Factor IX can lead to hemophilia B, a genetic disorder characterized by prolonged bleeding and an increased risk of spontaneous bleeding. Hemophilia B is inherited in an X-linked recessive pattern, meaning it primarily affects males, while females serve as carriers of the disease. Treatment for hemophilia B typically involves replacing the missing or deficient Factor IX through infusions to prevent or manage bleeding episodes.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

Familial dysautonomia (FD) is a genetic disorder that affects the autonomic nervous system (ANS), which controls automatic functions such as heart rate, blood pressure, body temperature, and digestion. It is also known as Riley-Day syndrome or Hereditary Sensory and Autonomic Neuropathy Type III (HSAN III).

FD is caused by a mutation in the IKBKAP gene, which provides instructions for making a protein that is essential for the development and function of certain nerves. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to have the disease.

The symptoms of familial dysautonomia can vary widely, but often include:

* Difficulty regulating blood pressure and heart rate, leading to fluctuations in blood pressure, dizziness, and fainting spells
* Poor temperature regulation, causing episodes of sweating or flushing
* Difficulty swallowing and poor muscle tone in the face and tongue
* Absent or reduced deep tendon reflexes
* Delayed growth and development
* Reduced sensitivity to pain and temperature changes
* Emotional lability and behavioral problems

There is no cure for familial dysautonomia, but treatment can help manage symptoms and improve quality of life. Treatment may include medications to regulate blood pressure and heart rate, physical therapy to improve muscle tone and coordination, and feeding tubes or special diets to ensure adequate nutrition.

Lipid metabolism disorders are a group of conditions that result from abnormalities in the breakdown, transport, or storage of lipids (fats) in the body. These disorders can lead to an accumulation of lipids in various tissues and organs, causing them to function improperly.

There are several types of lipid metabolism disorders, including:

1. Hyperlipidemias: These are conditions characterized by high levels of cholesterol or triglycerides in the blood. They can increase the risk of cardiovascular disease and pancreatitis.
2. Hypercholesterolemia: This is a condition characterized by high levels of low-density lipoprotein (LDL) cholesterol, also known as "bad" cholesterol, in the blood. It can increase the risk of cardiovascular disease.
3. Hypocholesterolemias: These are conditions characterized by low levels of cholesterol in the blood. Some of these disorders may be associated with an increased risk of cancer and neurological disorders.
4. Hypertriglyceridemias: These are conditions characterized by high levels of triglycerides in the blood. They can increase the risk of pancreatitis and cardiovascular disease.
5. Lipodystrophies: These are conditions characterized by abnormalities in the distribution of body fat, which can lead to metabolic abnormalities such as insulin resistance, diabetes, and high levels of triglycerides.
6. Disorders of fatty acid oxidation: These are conditions that affect the body's ability to break down fatty acids for energy, leading to muscle weakness, liver dysfunction, and in some cases, life-threatening neurological complications.

Lipid metabolism disorders can be inherited or acquired, and their symptoms and severity can vary widely depending on the specific disorder and the individual's overall health status. Treatment may include lifestyle changes, medications, and dietary modifications to help manage lipid levels and prevent complications.

Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.

Hemochromatosis is a medical condition characterized by excessive absorption and accumulation of iron in the body, resulting in damage to various organs. It's often referred to as "iron overload" disorder. There are two main types: primary (hereditary) and secondary (acquired). Primary hemochromatosis is caused by genetic mutations that lead to increased intestinal iron absorption, while secondary hemochromatosis can be the result of various conditions such as multiple blood transfusions, chronic liver disease, or certain types of anemia.

In both cases, the excess iron gets stored in body tissues, particularly in the liver, heart, and pancreas, which can cause organ damage and lead to complications like cirrhosis, liver failure, diabetes, heart problems, and skin discoloration. Early diagnosis and treatment through regular phlebotomy (blood removal) or chelation therapy can help manage the condition and prevent severe complications.

Chromosomes are thread-like structures that contain genetic material, i.e., DNA and proteins, present in the nucleus of human cells. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each diploid cell. Twenty-two of these pairs are called autosomal chromosomes, which come in identical pairs and contain genes that determine various traits unrelated to sex.

The last pair is referred to as the sex chromosomes (X and Y), which determines a person's biological sex. Females have two X chromosomes (46, XX), while males possess one X and one Y chromosome (46, XY). Chromosomes vary in size, with the largest being chromosome 1 and the smallest being the Y chromosome.

Human chromosomes are typically visualized during mitosis or meiosis using staining techniques that highlight their banding patterns, allowing for identification of specific regions and genes. Chromosomal abnormalities can lead to various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

Homocystinuria is a genetic disorder characterized by the accumulation of homocysteine and its metabolites in the body due to a deficiency in the enzyme cystathionine beta-synthase (CBS). This enzyme is responsible for converting homocysteine to cystathionine, which is a critical step in the metabolic pathway that breaks down methionine.

As a result of this deficiency, homocysteine levels in the blood increase and can lead to various health problems, including neurological impairment, ocular abnormalities (such as ectopia lentis or dislocation of the lens), skeletal abnormalities (such as Marfan-like features), and vascular complications.

Homocystinuria can be diagnosed through newborn screening or by measuring homocysteine levels in the blood or urine. Treatment typically involves a low-methionine diet, supplementation with vitamin B6 (pyridoxine), betaine, and/or methylcobalamin (a form of vitamin B12) to help reduce homocysteine levels and prevent complications associated with the disorder.

Hemophilia B is a genetic disorder that affects the body's ability to control blood clotting, also known as coagulation. This condition is caused by a deficiency or dysfunction in Factor IX, one of the proteins essential for normal blood clotting. As a result, people with Hemophilia B experience prolonged bleeding and bruising after injuries, surgeries, or spontaneously, particularly in joints and muscles.

There are different degrees of severity, depending on how much Factor IX is missing or not functioning properly. Mild cases may only become apparent after significant trauma, surgery, or tooth extraction, while severe cases can lead to spontaneous bleeding into joints and muscles, causing pain, swelling, and potential long-term damage. Hemophilia B primarily affects males, as it is an X-linked recessive disorder, but females can be carriers of the condition and may experience mild symptoms.

Beta-thalassemia is a genetic blood disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. Specifically, beta-thalassemia is caused by mutations in the beta-globin gene, which leads to reduced or absent production of the beta-globin component of hemoglobin.

There are two main types of beta-thalassemia:

1. Beta-thalassemia major (also known as Cooley's anemia): This is a severe form of the disorder that typically becomes apparent in early childhood. It is characterized by a significant reduction or absence of beta-globin production, leading to anemia, enlarged spleen and liver, jaundice, and growth retardation.
2. Beta-thalassemia intermedia: This is a milder form of the disorder that may not become apparent until later in childhood or even adulthood. It is characterized by a variable reduction in beta-globin production, leading to mild to moderate anemia and other symptoms that can range from nonexistent to severe.

Treatment for beta-thalassemia depends on the severity of the disorder and may include blood transfusions, iron chelation therapy, and/or bone marrow transplantation. In some cases, genetic counseling and prenatal diagnosis may also be recommended for families with a history of the disorder.

The exome is the part of the genome that contains all the protein-coding regions. It represents less than 2% of the human genome but accounts for about 85% of disease-causing mutations. Exome sequencing, therefore, is a cost-effective and efficient method to identify genetic variants associated with various diseases, including cancer, neurological disorders, and inherited genetic conditions.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

A dependovirus, also known as a dependent adenovirus or satellite adenovirus, is a type of virus that requires the presence of another virus, specifically an adenovirus, to replicate. Dependoviruses are small, non-enveloped viruses with a double-stranded DNA genome. They cannot complete their replication cycle without the help of an adenovirus, which provides necessary functions for the dependovirus to replicate.

Dependoviruses are clinically significant because they can cause disease in humans, particularly in individuals with weakened immune systems. In some cases, dependoviruses may also affect the severity and outcome of adenovirus infections. However, it is important to note that not all adenovirus infections are associated with dependovirus co-infections.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

A genetic database is a type of biomedical or health informatics database that stores and organizes genetic data, such as DNA sequences, gene maps, genotypes, haplotypes, and phenotype information. These databases can be used for various purposes, including research, clinical diagnosis, and personalized medicine.

There are different types of genetic databases, including:

1. Genomic databases: These databases store whole genome sequences, gene expression data, and other genomic information. Examples include the National Center for Biotechnology Information's (NCBI) GenBank, the European Nucleotide Archive (ENA), and the DNA Data Bank of Japan (DDBJ).
2. Gene databases: These databases contain information about specific genes, including their location, function, regulation, and evolution. Examples include the Online Mendelian Inheritance in Man (OMIM) database, the Universal Protein Resource (UniProt), and the Gene Ontology (GO) database.
3. Variant databases: These databases store information about genetic variants, such as single nucleotide polymorphisms (SNPs), insertions/deletions (INDELs), and copy number variations (CNVs). Examples include the Database of Single Nucleotide Polymorphisms (dbSNP), the Catalogue of Somatic Mutations in Cancer (COSMIC), and the International HapMap Project.
4. Clinical databases: These databases contain genetic and clinical information about patients, such as their genotype, phenotype, family history, and response to treatments. Examples include the ClinVar database, the Pharmacogenomics Knowledgebase (PharmGKB), and the Genetic Testing Registry (GTR).
5. Population databases: These databases store genetic information about different populations, including their ancestry, demographics, and genetic diversity. Examples include the 1000 Genomes Project, the Human Genome Diversity Project (HGDP), and the Allele Frequency Net Database (AFND).

Genetic databases can be publicly accessible or restricted to authorized users, depending on their purpose and content. They play a crucial role in advancing our understanding of genetics and genomics, as well as improving healthcare and personalized medicine.

Phenylketonurias (PKU) is a genetic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, due to a deficiency of the enzyme phenylalanine hydroxylase. This results in a buildup of phenylalanine in the blood and other tissues, which can cause serious neurological problems if left untreated.

The condition is typically detected through newborn screening and can be managed through a strict diet that limits the intake of phenylalanine. If left untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and other serious health issues. In some cases, medication or a liver transplant may also be necessary to manage the condition.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

Dystrophin is a protein that provides structural stability to muscle fibers. It is an essential component of the dystrophin-glycoprotein complex, which helps maintain the integrity of the sarcolemma (the membrane surrounding muscle cells) during muscle contraction and relaxation. Dystrophin plays a crucial role in connecting the cytoskeleton of the muscle fiber to the extracellular matrix, allowing for force transmission and protecting the muscle cell from damage.

Mutations in the DMD gene, which encodes dystrophin, can lead to various forms of muscular dystrophy, including Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). In DMD, a severe form of the disease, genetic alterations typically result in little or no production of functional dystrophin, causing progressive muscle weakness, wasting, and degeneration. In BMD, a milder form of the disorder, partially functional dystrophin is produced, leading to less severe symptoms and later onset of the disease.

Alpha 1-Antitrypsin (AAT) deficiency is a genetic disorder that results from insufficient levels of the protective protein AAT in the blood and lungs. This protein is produced by the liver and helps to protect the lungs from damage caused by inflammation and the action of enzymes, such as neutrophil elastase, that are released during the immune response.

In people with AAT deficiency, the lack of adequate AAT levels leads to an uncontrolled increase in neutrophil elastase activity, which can cause damage to lung tissue and result in emphysema, a condition characterized by shortness of breath, coughing, and wheezing. Additionally, some individuals with AAT deficiency may develop liver disease due to the accumulation of abnormal AAT proteins in liver cells.

There are different variants or genotypes associated with AAT deficiency, with the most common and severe form being the PiZZ genotype. This variant is caused by mutations in the SERPINA1 gene, which encodes for the AAT protein. Individuals who inherit two copies of this mutated gene (one from each parent) will have very low levels of AAT in their blood and are at increased risk of developing emphysema and liver disease.

Diagnosis of AAT deficiency typically involves measuring AAT levels in the blood and performing genetic testing to identify specific variants of the SERPINA1 gene. Treatment may include lifestyle modifications, such as smoking cessation, bronchodilators, and corticosteroids to manage lung symptoms, as well as augmentation therapy with intravenous infusions of AAT protein to help slow disease progression in individuals with severe deficiency. Liver transplantation may be considered for those with advanced liver disease.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

Penetrance, in medical genetics, refers to the proportion of individuals with a particular genetic variant or mutation who exhibit clinical features or symptoms of a resulting disease. It is often expressed as a percentage, with complete penetrance indicating that all individuals with the genetic change will develop the disease, and reduced or incomplete penetrance suggesting that not all individuals with the genetic change will necessarily develop the disease, even if they express some of its characteristics.

Penetrance can vary depending on various factors such as age, sex, environmental influences, and interactions with other genes. Incomplete penetrance is common in many genetic disorders, making it challenging to predict who will develop symptoms based solely on their genotype.

Muscular dystrophies are a group of genetic disorders that primarily affect skeletal muscles, causing progressive weakness and degeneration. They are characterized by the lack or deficiency of a protein called dystrophin, which is essential for maintaining the integrity of muscle fibers. The most common form is Duchenne muscular dystrophy (DMD), but there are many other types with varying symptoms and severity. Over time, muscle wasting and weakness can lead to disability and shortened lifespan, depending on the type and progression of the disease. Treatment typically focuses on managing symptoms, maintaining mobility, and supporting quality of life.

Gene targeting is a research technique in molecular biology used to precisely modify specific genes within the genome of an organism. This technique allows scientists to study gene function by creating targeted genetic changes, such as insertions, deletions, or mutations, in a specific gene of interest. The process typically involves the use of engineered nucleases, such as CRISPR-Cas9 or TALENs, to introduce double-stranded breaks at desired locations within the genome. These breaks are then repaired by the cell's own DNA repair machinery, often leading to the incorporation of designed changes in the targeted gene. Gene targeting is a powerful tool for understanding gene function and has wide-ranging applications in basic research, agriculture, and therapeutic development.

Steroid 21-hydroxylase, also known as CYP21A2, is a crucial enzyme involved in the synthesis of steroid hormones in the adrenal gland. Specifically, it catalyzes the conversion of 17-hydroxyprogesterone to 11-deoxycortisol and progesterone to deoxycorticosterone in the glucocorticoid and mineralocorticoid pathways, respectively.

Deficiency or mutations in this enzyme can lead to a group of genetic disorders called congenital adrenal hyperplasia (CAH), which is characterized by impaired cortisol production and disrupted hormonal balance. Depending on the severity of the deficiency, CAH can result in various symptoms such as ambiguous genitalia, precocious puberty, sexual infantilism, infertility, and increased risk of adrenal crisis.

Computational biology is a branch of biology that uses mathematical and computational methods to study biological data, models, and processes. It involves the development and application of algorithms, statistical models, and computational approaches to analyze and interpret large-scale molecular and phenotypic data from genomics, transcriptomics, proteomics, metabolomics, and other high-throughput technologies. The goal is to gain insights into biological systems and processes, develop predictive models, and inform experimental design and hypothesis testing in the life sciences. Computational biology encompasses a wide range of disciplines, including bioinformatics, systems biology, computational genomics, network biology, and mathematical modeling of biological systems.

DNA Sequence Analysis is the systematic determination of the order of nucleotides in a DNA molecule. It is a critical component of modern molecular biology, genetics, and genetic engineering. The process involves determining the exact order of the four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - in a DNA molecule or fragment. This information is used in various applications such as identifying gene mutations, studying evolutionary relationships, developing molecular markers for breeding, and diagnosing genetic diseases.

The process of DNA Sequence Analysis typically involves several steps, including DNA extraction, PCR amplification (if necessary), purification, sequencing reaction, and electrophoresis. The resulting data is then analyzed using specialized software to determine the exact sequence of nucleotides.

In recent years, high-throughput DNA sequencing technologies have revolutionized the field of genomics, enabling the rapid and cost-effective sequencing of entire genomes. This has led to an explosion of genomic data and new insights into the genetic basis of many diseases and traits.

Haploinsufficiency is a genetic concept referring to the situation where an individual with only one functional copy of a gene, out of the two copies (one inherited from each parent) that most genes have, exhibits a phenotype or clinical features associated with the gene. This means that having just one working copy of the gene is not enough to ensure normal function, and a reduction in the dosage of the gene's product leads to a negative effect on the organism.

Haploinsufficiency can occur due to various genetic mechanisms such as point mutations, deletions, or other types of alterations that affect the expression or function of the gene. This concept is important in genetics and genomics research, particularly in the study of genetic disorders and diseases, including cancer, where haploinsufficiency of tumor suppressor genes can contribute to tumor development and progression.

Alu elements are short, repetitive sequences of DNA that are found in the genomes of primates, including humans. These elements are named after the restriction enzyme Alu, which was used to first identify them. Alu elements are derived from a 7SL RNA molecule and are typically around 300 base pairs in length. They are characterized by their ability to move or "jump" within the genome through a process called transposition.

Alu elements make up about 11% of the human genome and are thought to have played a role in shaping its evolution. They can affect gene expression, regulation, and function, and have been associated with various genetic disorders and diseases. Additionally, Alu elements can also serve as useful markers for studying genetic diversity and evolutionary relationships among primates.

Biological models, also known as physiological models or organismal models, are simplified representations of biological systems, processes, or mechanisms that are used to understand and explain the underlying principles and relationships. These models can be theoretical (conceptual or mathematical) or physical (such as anatomical models, cell cultures, or animal models). They are widely used in biomedical research to study various phenomena, including disease pathophysiology, drug action, and therapeutic interventions.

Examples of biological models include:

1. Mathematical models: These use mathematical equations and formulas to describe complex biological systems or processes, such as population dynamics, metabolic pathways, or gene regulation networks. They can help predict the behavior of these systems under different conditions and test hypotheses about their underlying mechanisms.
2. Cell cultures: These are collections of cells grown in a controlled environment, typically in a laboratory dish or flask. They can be used to study cellular processes, such as signal transduction, gene expression, or metabolism, and to test the effects of drugs or other treatments on these processes.
3. Animal models: These are living organisms, usually vertebrates like mice, rats, or non-human primates, that are used to study various aspects of human biology and disease. They can provide valuable insights into the pathophysiology of diseases, the mechanisms of drug action, and the safety and efficacy of new therapies.
4. Anatomical models: These are physical representations of biological structures or systems, such as plastic models of organs or tissues, that can be used for educational purposes or to plan surgical procedures. They can also serve as a basis for developing more sophisticated models, such as computer simulations or 3D-printed replicas.

Overall, biological models play a crucial role in advancing our understanding of biology and medicine, helping to identify new targets for therapeutic intervention, develop novel drugs and treatments, and improve human health.

Gene frequency, also known as allele frequency, is a measure in population genetics that reflects the proportion of a particular gene or allele (variant of a gene) in a given population. It is calculated as the number of copies of a specific allele divided by the total number of all alleles at that genetic locus in the population.

For example, if we consider a gene with two possible alleles, A and a, the gene frequency of allele A (denoted as p) can be calculated as follows:

p = (number of copies of allele A) / (total number of all alleles at that locus)

Similarly, the gene frequency of allele a (denoted as q) would be:

q = (number of copies of allele a) / (total number of all alleles at that locus)

Since there are only two possible alleles for this gene in this example, p + q = 1. These frequencies can help researchers understand genetic diversity and evolutionary processes within populations.

Mucopolysaccharidosis I (MPS I) is a rare genetic disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is responsible for breaking down complex sugars called glycosaminoglycans (GAGs), also known as mucopolysaccharides, in the body.

When the enzyme is deficient, GAGs accumulate in various tissues and organs, leading to a range of symptoms that can affect different parts of the body, including the skeletal system, heart, respiratory system, eyes, and central nervous system. There are three subtypes of MPS I: Hurler syndrome (the most severe form), Hurler-Scheie syndrome (an intermediate form), and Scheie syndrome (the least severe form).

The symptoms and severity of MPS I can vary widely depending on the specific subtype, with Hurler syndrome typically causing more significant health problems and a shorter life expectancy than the other two forms. Treatment options for MPS I include enzyme replacement therapy, bone marrow transplantation, and various supportive therapies to manage symptoms and improve quality of life.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

Mitochondrial diseases are a group of disorders caused by dysfunctions in the mitochondria, which are the energy-producing structures in cells. These diseases can affect people of any age and can manifest in various ways, depending on which organs or systems are affected. Common symptoms include muscle weakness, neurological problems, cardiac disease, diabetes, and vision/hearing loss. Mitochondrial diseases can be inherited from either the mother's or father's side, or they can occur spontaneously due to genetic mutations. They can range from mild to severe and can even be life-threatening in some cases.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of multiple cysts in the kidneys. These cysts are fluid-filled sacs that can vary in size and can multiply, leading to enlarged kidneys. The increased size and number of cysts can result in reduced kidney function, high blood pressure, and eventually kidney failure.

There are two main types of PKD: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD). ADPKD is the most common form, affecting approximately 1 in every 500 people. It typically develops in adulthood. On the other hand, ARPKD is a rarer form, affecting about 1 in every 20,000 children, and it often presents in infancy or early childhood.

In addition to kidney problems, PKD can also affect other organs, such as the liver and the heart. It's important to note that while there is no cure for PKD, various treatments can help manage symptoms and slow down the progression of the disease.

A genome is the complete set of genetic material (DNA, or in some viruses, RNA) present in a single cell of an organism. It includes all of the genes, both coding and noncoding, as well as other regulatory elements that together determine the unique characteristics of that organism. The human genome, for example, contains approximately 3 billion base pairs and about 20,000-25,000 protein-coding genes.

The term "genome" was first coined by Hans Winkler in 1920, derived from the word "gene" and the suffix "-ome," which refers to a complete set of something. The study of genomes is known as genomics.

Understanding the genome can provide valuable insights into the genetic basis of diseases, evolution, and other biological processes. With advancements in sequencing technologies, it has become possible to determine the entire genomic sequence of many organisms, including humans, and use this information for various applications such as personalized medicine, gene therapy, and biotechnology.

Congenital abnormalities, also known as birth defects, are structural or functional anomalies that are present at birth. These abnormalities can develop at any point during fetal development, and they can affect any part of the body. They can be caused by genetic factors, environmental influences, or a combination of both.

Congenital abnormalities can range from mild to severe and may include structural defects such as heart defects, neural tube defects, and cleft lip and palate, as well as functional defects such as intellectual disabilities and sensory impairments. Some congenital abnormalities may be visible at birth, while others may not become apparent until later in life.

In some cases, congenital abnormalities may be detected through prenatal testing, such as ultrasound or amniocentesis. In other cases, they may not be diagnosed until after the baby is born. Treatment for congenital abnormalities varies depending on the type and severity of the defect, and may include surgery, therapy, medication, or a combination of these approaches.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Kallmann Syndrome is a genetic condition that is characterized by hypogonadotropic hypogonadism (reduced or absent function of the gonads (ovaries or testes) due to deficient secretion of pituitary gonadotropins) and anosmia or hyposmia (reduced or absent sense of smell). It is caused by abnormal migration of neurons that produce gonadotropin-releasing hormone (GnRH) during fetal development, which results in decreased production of sex hormones and delayed or absent puberty.

Kallmann Syndrome can also be associated with other symptoms such as color vision deficiency, hearing loss, renal agenesis, and neurological defects. It is typically inherited in an autosomal dominant or X-linked recessive pattern, and diagnosis usually involves a combination of clinical evaluation, hormonal testing, and genetic analysis. Treatment may include hormone replacement therapy to induce puberty and maintain sexual function, as well as management of associated symptoms.

'Inbred CFTR mice' refers to a strain of laboratory mice that have been selectively bred to carry a specific genetic mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene provides instructions for making a protein that helps regulate the movement of salt and water in and out of cells.

In humans, mutations in the CFTR gene can lead to cystic fibrosis (CF), a genetic disorder that affects multiple organs, particularly the lungs and digestive system. The most common CF-causing mutation is called ΔF508, which results in the production of a misfolded CFTR protein that does not function properly.

Inbred CFTR mice carry the same ΔF508 mutation as human CF patients and can serve as an important model for studying the disease mechanisms and testing potential therapies. These mice exhibit many of the symptoms seen in human CF, including lung inflammation, mucus accumulation, and digestive problems. By using inbred CFTR mice, researchers can control for genetic background and focus on the effects of the CFTR mutation, providing valuable insights into the pathophysiology of cystic fibrosis.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder characterized by the growth of multiple cysts in the kidneys. These cysts are fluid-filled sacs that can vary in size and can multiply, leading to enlarged kidneys. The increased size and number of cysts can eventually result in reduced kidney function, high blood pressure, and potentially kidney failure.

ADPKD is an autosomal dominant disorder, meaning it only requires one copy of the altered gene (from either the mother or father) to have the disease. Each child of an affected individual has a 50% chance of inheriting the mutated gene. The two genes most commonly associated with ADPKD are PKD1 and PKD2, located on chromosomes 16 and 4, respectively.

Symptoms can vary widely among individuals with ADPKD, but they often include high blood pressure, back or side pain, headaches, increased abdominal size due to enlarged kidneys, blood in the urine, and kidney failure. Other complications may include cysts in the liver, pancreas, and/or brain (berries aneurysms).

Early diagnosis and management of ADPKD can help slow down disease progression and improve quality of life. Treatment typically includes controlling high blood pressure, managing pain, monitoring kidney function, and addressing complications as they arise. In some cases, dialysis or a kidney transplant may be necessary if kidney failure occurs.

Hemophilia A is a genetic bleeding disorder caused by a deficiency in clotting factor VIII. This results in impaired blood clotting and prolonged bleeding, particularly after injuries or surgeries. Symptoms can range from mild to severe, with the most severe form resulting in spontaneous bleeding into joints and muscles, leading to pain, swelling, and potential joint damage over time. Hemophilia A primarily affects males, as it is an X-linked recessive disorder, and is usually inherited from a carrier mother. However, about one third of cases result from a spontaneous mutation in the gene for factor VIII. Treatment typically involves replacement therapy with infusions of factor VIII concentrates to prevent or control bleeding episodes.

Transient Receptor Potential (TRP) channels are a type of ion channel that play a crucial role in various physiological processes, including sensory perception, cellular signaling, and regulation of intracellular calcium levels. TRPP cation channels, also known as TRPP subfamily or polycystin channels, are a specific subgroup within the TRP channel family.

TRPP channels consist of two members: TRPP1 (also known as PKD1 or polycystin-1) and TRPP2 (also known as PKD2 or polycystin-2). These channels form heterodimers, meaning they are composed of two different subunits that come together to create a functional channel.

TRPP channels are primarily located in the primary cilium, a hair-like structure protruding from the cell surface, and in the endoplasmic reticulum (ER), an intracellular organelle involved in protein folding and calcium storage. They function as mechano- and chemosensors, responding to various stimuli such as mechanical forces, changes in temperature, pH, or chemical ligands.

TRPP channels are particularly important in the context of renal physiology and pathophysiology. Mutations in TRPP1 and TRPP2 have been linked to autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by the formation of fluid-filled cysts in the kidneys, leading to progressive loss of renal function.

In summary, TRPP cation channels are a subfamily of TRP channels formed by the heterodimerization of TRPP1 and TRPP2 subunits. They play essential roles in sensory perception, cellular signaling, and calcium homeostasis, with particular significance in renal physiology and pathophysiology.

A codon is a sequence of three adjacent nucleotides in DNA or RNA that specifies a particular amino acid during the process of protein synthesis, or codes for the termination of translation. In DNA, these triplets are read in a 5' to 3' direction, while in mRNA, they are read in a 5' to 3' direction as well. There are 64 possible codons (4^3) in the genetic code, and 61 of them specify amino acids. The remaining three codons, UAA, UAG, and UGA, are terminator or stop codons that signal the end of protein synthesis.

Terminator codons, also known as nonsense codons, do not code for any amino acids. Instead, they cause the release of the newly synthesized polypeptide chain from the ribosome, which is the complex machinery responsible for translating the genetic code into a protein. This process is called termination or translation termination.

In prokaryotic cells, termination occurs when a release factor recognizes and binds to the stop codon in the A site of the ribosome. This triggers the hydrolysis of the peptidyl-tRNA bond, releasing the completed polypeptide chain from the tRNA and the ribosome. In eukaryotic cells, a similar process occurs, but it involves different release factors and additional steps to ensure accurate termination.

In summary, a codon is a sequence of three adjacent nucleotides in DNA or RNA that specifies an amino acid or signals the end of protein synthesis. Terminator codons are specific codons that do not code for any amino acids and instead signal the end of translation, leading to the release of the newly synthesized polypeptide chain from the ribosome.

Trinucleotide Repeat Expansion is a genetic mutation where a sequence of three DNA nucleotides is repeated more frequently than what is typically found in the general population. In this type of mutation, the number of repeats can expand or increase from one generation to the next, leading to an increased risk of developing certain genetic disorders.

These disorders are often neurological and include conditions such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The severity of these diseases can be related to the number of repeats present in the affected gene, with a higher number of repeats leading to more severe symptoms or an earlier age of onset.

It is important to note that not all trinucleotide repeat expansions will result in disease, and some people may carry these mutations without ever developing any symptoms. However, if the number of repeats crosses a certain threshold, it can lead to genetic instability and an increased risk of disease development.

I am not aware of a widely accepted medical definition for the term "software," as it is more commonly used in the context of computer science and technology. Software refers to programs, data, and instructions that are used by computers to perform various tasks. It does not have direct relevance to medical fields such as anatomy, physiology, or clinical practice. If you have any questions related to medicine or healthcare, I would be happy to try to help with those instead!

The Founder Effect is a concept in population genetics that refers to the loss of genetic variation that occurs when a new colony is established by a small number of individuals from a larger population. This decrease in genetic diversity can lead to an increase in homozygosity, which can in turn result in a higher frequency of certain genetic disorders or traits within the founding population and its descendants. The Founder Effect is named after the "founding" members of the new colony who carry and pass on their particular set of genes to the next generations. It is one of the mechanisms that can lead to the formation of distinct populations or even new species over time.

Neoplasms are abnormal growths of cells or tissues in the body that serve no physiological function. They can be benign (non-cancerous) or malignant (cancerous). Benign neoplasms are typically slow growing and do not spread to other parts of the body, while malignant neoplasms are aggressive, invasive, and can metastasize to distant sites.

Neoplasms occur when there is a dysregulation in the normal process of cell division and differentiation, leading to uncontrolled growth and accumulation of cells. This can result from genetic mutations or other factors such as viral infections, environmental exposures, or hormonal imbalances.

Neoplasms can develop in any organ or tissue of the body and can cause various symptoms depending on their size, location, and type. Treatment options for neoplasms include surgery, radiation therapy, chemotherapy, immunotherapy, and targeted therapy, among others.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Kartagener Syndrome is a rare genetic disorder that primarily affects the respiratory system. It is characterized by the triad of chronic sinusitis, bronchiectasis (damage and widening of the airways in the lungs), and situs inversus totalis - a condition where the major visceral organs are mirrored or reversed from their normal positions.

In Kartagener Syndrome, the cilia (tiny hair-like structures) lining the respiratory tract are abnormal or dysfunctional, which impairs their ability to clear mucus and other particles. This leads to recurrent respiratory infections, bronchiectasis, and ultimately, progressive lung damage.

The condition is inherited as an autosomal recessive trait, meaning that an individual must inherit two copies of the defective gene - one from each parent - to develop the syndrome. Kartagener Syndrome is a subtype of primary ciliary dyskinesia (PCD), a group of disorders affecting ciliary structure and function.

Spinal muscular atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which results in a deficiency of SMN protein necessary for the survival of motor neurons.

There are several types of SMA, classified based on the age of onset and severity of symptoms. The most common type is type 1, also known as Werdnig-Hoffmann disease, which presents in infancy and is characterized by severe muscle weakness, hypotonia, and feeding difficulties. Other types include type 2 (intermediate SMA), type 3 (Kugelberg-Welander disease), and type 4 (adult-onset SMA).

The symptoms of SMA may include muscle wasting, fasciculations, weakness, hypotonia, respiratory difficulties, and mobility impairment. The diagnosis of SMA typically involves genetic testing to confirm the presence of a mutation in the SMN1 gene. Treatment options for SMA may include medications, physical therapy, assistive devices, and respiratory support.

Genomics is the scientific study of genes and their functions. It involves the sequencing and analysis of an organism's genome, which is its complete set of DNA, including all of its genes. Genomics also includes the study of how genes interact with each other and with the environment. This field of study can provide important insights into the genetic basis of diseases and can lead to the development of new diagnostic tools and treatments.

Survival of Motor Neuron 1 (SMN1) protein is a critical component for the survival of motor neurons, which are nerve cells that control muscle movements. The SMN1 protein is produced by the Survival of Motor Neuron 1 gene, located on human chromosome 5q13.

The primary function of the SMN1 protein is to assist in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential for spliceosomes - complex molecular machines responsible for RNA processing in the cell. The absence or significant reduction of SMN1 protein leads to defective snRNP assembly, impaired RNA splicing, and ultimately results in motor neuron degeneration.

Mutations in the SMN1 gene can cause Spinal Muscular Atrophy (SMA), a genetic disorder characterized by progressive muscle weakness, atrophy, and paralysis due to the loss of lower motor neurons in the spinal cord. The severity of SMA depends on the amount of functional SMN1 protein produced, with less protein leading to more severe symptoms.

Ataxia telangiectasia is a rare, inherited genetic disorder that affects the nervous system, immune system, and overall development. The condition is characterized by progressive difficulty with coordination and balance (ataxia), as well as the development of small, dilated blood vessels (telangiectasias) on the skin and eyes.

The underlying cause of ataxia telangiectasia is a mutation in the ATM gene, which provides instructions for making a protein that plays a critical role in DNA repair and maintaining genetic stability. When this gene is mutated, cells are unable to properly repair damaged DNA, leading to an increased risk of cancer and other health problems.

Individuals with ataxia telangiectasia typically begin to show symptoms during early childhood, with progressive difficulties in coordination and balance, slurred speech, and recurrent respiratory infections due to weakened immune function. Over time, these symptoms can worsen, leading to significant disability and reduced life expectancy.

There is currently no cure for ataxia telangiectasia, and treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, speech therapy, and medications to help control infections and other health problems.

Factor X is a protein that is essential for blood clotting, also known as coagulation. It is an enzyme that plays a crucial role in the coagulation cascade, which is a series of chemical reactions that lead to the formation of a blood clot. Factor X is activated by one of two pathways: the intrinsic pathway, which is initiated by damage to the blood vessels, or the extrinsic pathway, which is triggered by the release of tissue factor from damaged cells. Once activated, Factor X converts prothrombin to thrombin, which then converts fibrinogen to fibrin to form a stable clot.

Inherited deficiencies in Factor X can lead to bleeding disorders, while increased levels of Factor X have been associated with an increased risk of thrombosis or blood clots. Therefore, maintaining appropriate levels of Factor X is important for the proper balance between bleeding and clotting in the body.

Cystathionine beta-synthase (CBS) is an enzyme that plays a crucial role in the metabolic pathway responsible for the production of the amino acid cysteine from homocysteine. CBS catalyzes the condensation of serine with homocysteine to form cystathionine, which is subsequently hydrolyzed to cysteine and alpha-ketobutyrate by another enzyme called cystathionine gamma-lyase.

CBS requires the cofactor pyridoxal 5'-phosphate (PLP) for its activity and is primarily located in the liver, where it helps regulate homocysteine levels in the body. Elevated levels of homocysteine have been linked to various health issues, including cardiovascular disease and neurological disorders.

In addition to its role in cysteine synthesis, CBS also contributes to the transsulfuration pathway, which is involved in the detoxification of methionine and the production of glutathione, an essential antioxidant in the body. Genetic mutations in the CBS gene can lead to conditions such as homocystinuria, a rare inherited metabolic disorder characterized by elevated levels of homocysteine and methionine in the blood and urine.

An algorithm is not a medical term, but rather a concept from computer science and mathematics. In the context of medicine, algorithms are often used to describe step-by-step procedures for diagnosing or managing medical conditions. These procedures typically involve a series of rules or decision points that help healthcare professionals make informed decisions about patient care.

For example, an algorithm for diagnosing a particular type of heart disease might involve taking a patient's medical history, performing a physical exam, ordering certain diagnostic tests, and interpreting the results in a specific way. By following this algorithm, healthcare professionals can ensure that they are using a consistent and evidence-based approach to making a diagnosis.

Algorithms can also be used to guide treatment decisions. For instance, an algorithm for managing diabetes might involve setting target blood sugar levels, recommending certain medications or lifestyle changes based on the patient's individual needs, and monitoring the patient's response to treatment over time.

Overall, algorithms are valuable tools in medicine because they help standardize clinical decision-making and ensure that patients receive high-quality care based on the latest scientific evidence.

Population Genetics is a subfield of genetics that deals with the genetic composition of populations and how this composition changes over time. It involves the study of the frequency and distribution of genes and genetic variations in populations, as well as the evolutionary forces that contribute to these patterns, such as mutation, gene flow, genetic drift, and natural selection.

Population genetics can provide insights into a wide range of topics, including the history and relationships between populations, the genetic basis of diseases and other traits, and the potential impacts of environmental changes on genetic diversity. This field is important for understanding evolutionary processes at the population level and has applications in areas such as conservation biology, medical genetics, and forensic science.

Neurofibromin 1 is a protein that is encoded by the NF1 gene in humans. Neurofibromin 1 acts as a tumor suppressor, helping to regulate cell growth and division. It plays an important role in the nervous system, where it helps to control the development and function of nerve cells. Mutations in the NF1 gene can lead to neurofibromatosis type 1 (NF1), a genetic disorder characterized by the growth of non-cancerous tumors on the nerves (neurofibromas) and other symptoms.

Gene expression is the process by which the information encoded in a gene is used to synthesize a functional gene product, such as a protein or RNA molecule. This process involves several steps: transcription, RNA processing, and translation. During transcription, the genetic information in DNA is copied into a complementary RNA molecule, known as messenger RNA (mRNA). The mRNA then undergoes RNA processing, which includes adding a cap and tail to the mRNA and splicing out non-coding regions called introns. The resulting mature mRNA is then translated into a protein on ribosomes in the cytoplasm through the process of translation.

The regulation of gene expression is a complex and highly controlled process that allows cells to respond to changes in their environment, such as growth factors, hormones, and stress signals. This regulation can occur at various stages of gene expression, including transcriptional activation or repression, RNA processing, mRNA stability, and translation. Dysregulation of gene expression has been implicated in many diseases, including cancer, genetic disorders, and neurological conditions.

Ethylnitrosourea (ENU) is an alkylating agent, which is a type of chemical compound that has the ability to interact with and modify the structure of DNA. It is commonly used in laboratory research as a mutagen, which is a substance that increases the frequency of mutations or changes in the genetic material of organisms.

ENU is known to cause point mutations, which are small changes in the DNA sequence that can lead to alterations in the function of genes. This property makes ENU a valuable tool for studying gene function and for creating animal models of human diseases caused by genetic mutations.

It is important to note that ENU is a potent carcinogen, meaning it can cause cancer, and should be handled with care in laboratory settings. It is not used as a medical treatment in humans or animals.

Fanconi anemia (FA) is a genetic disorder characterized by various developmental abnormalities, bone marrow failure, and increased risk of malignancies. It is caused by mutations in genes involved in the FA complementation group, which are responsible for repairing damaged DNA.

The FA complementation group proteins include FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, and FAAP100. These proteins work together to form the FA core complex, which is responsible for monoubiquitinating FANCD2 and FANCI in response to DNA damage. This modification allows for the recruitment of downstream effectors that facilitate DNA repair and maintain genomic stability.

Defects in any of these FA complementation group proteins can lead to Fanconi anemia, with varying clinical manifestations depending on the specific gene involved and the severity of the mutation.

Inheritance patterns refer to the way in which a particular genetic trait or disorder is passed down from one generation to the next, following the rules of Mendelian genetics. There are several different inheritance patterns, including:

1. Autosomal dominant: A single copy of the altered gene in each cell is sufficient to cause the disorder. An affected parent has a 50% chance of passing on the altered gene to each offspring.
2. Autosomal recessive: Two copies of the altered gene in each cell are necessary for the disorder to occur. Both parents must be carriers of the altered gene and have a 25% chance of passing on the altered gene to each offspring, who may then develop the disorder.
3. X-linked dominant: The altered gene is located on the X chromosome, and one copy of the altered gene in each cell is sufficient to cause the disorder. Females are more likely to be affected than males, and an affected female has a 50% chance of passing on the altered gene to each offspring.
4. X-linked recessive: The altered gene is located on the X chromosome, and two copies of the altered gene in each cell are necessary for the disorder to occur. Males are more likely to be affected than females, and an affected male will pass on the altered gene to all of his daughters (who will be carriers) but none of his sons.
5. Mitochondrial inheritance: The altered gene is located in the mitochondria, the energy-producing structures in cells. Both males and females can pass on mitochondrial genetic disorders, but only through the female line because offspring inherit their mother's mitochondria.

Understanding inheritance patterns helps medical professionals predict the likelihood of a genetic disorder occurring in families and provides information about how a disorder may be passed down through generations.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

Genetic recombination is the process by which genetic material is exchanged between two similar or identical molecules of DNA during meiosis, resulting in new combinations of genes on each chromosome. This exchange occurs during crossover, where segments of DNA are swapped between non-sister homologous chromatids, creating genetic diversity among the offspring. It is a crucial mechanism for generating genetic variability and facilitating evolutionary change within populations. Additionally, recombination also plays an essential role in DNA repair processes through mechanisms such as homologous recombinational repair (HRR) and non-homologous end joining (NHEJ).

DNA repair is the process by which cells identify and correct damage to the DNA molecules that encode their genome. DNA can be damaged by a variety of internal and external factors, such as radiation, chemicals, and metabolic byproducts. If left unrepaired, this damage can lead to mutations, which may in turn lead to cancer and other diseases.

There are several different mechanisms for repairing DNA damage, including:

1. Base excision repair (BER): This process repairs damage to a single base in the DNA molecule. An enzyme called a glycosylase removes the damaged base, leaving a gap that is then filled in by other enzymes.
2. Nucleotide excision repair (NER): This process repairs more severe damage, such as bulky adducts or crosslinks between the two strands of the DNA molecule. An enzyme cuts out a section of the damaged DNA, and the gap is then filled in by other enzymes.
3. Mismatch repair (MMR): This process repairs errors that occur during DNA replication, such as mismatched bases or small insertions or deletions. Specialized enzymes recognize the error and remove a section of the newly synthesized strand, which is then replaced by new nucleotides.
4. Double-strand break repair (DSBR): This process repairs breaks in both strands of the DNA molecule. There are two main pathways for DSBR: non-homologous end joining (NHEJ) and homologous recombination (HR). NHEJ directly rejoins the broken ends, while HR uses a template from a sister chromatid to repair the break.

Overall, DNA repair is a crucial process that helps maintain genome stability and prevent the development of diseases caused by genetic mutations.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Molecular evolution is the process of change in the DNA sequence or protein structure over time, driven by mechanisms such as mutation, genetic drift, gene flow, and natural selection. It refers to the evolutionary study of changes in DNA, RNA, and proteins, and how these changes accumulate and lead to new species and diversity of life. Molecular evolution can be used to understand the history and relationships among different organisms, as well as the functional consequences of genetic changes.

Huntington Disease (HD) is a genetic neurodegenerative disorder that affects both cognitive and motor functions. It is characterized by the progressive loss of neurons in various areas of the brain, particularly in the striatum and cortex. The disease is caused by an autosomal dominant mutation in the HTT gene, which codes for the huntingtin protein. The most common mutation is a CAG repeat expansion in this gene, leading to the production of an abnormal form of the huntingtin protein that is toxic to nerve cells.

The symptoms of HD typically appear between the ages of 30 and 50, but they can start earlier or later in life. The early signs of HD may include subtle changes in mood, cognition, and coordination. As the disease progresses, individuals with HD experience uncontrolled movements (chorea), emotional disturbances, cognitive decline, and difficulties with communication and swallowing. Eventually, they become dependent on others for their daily needs and lose their ability to walk, talk, and care for themselves.

There is currently no cure for HD, but medications and therapies can help manage the symptoms of the disease and improve quality of life. Genetic testing is available to confirm the diagnosis and provide information about the risk of passing the disease on to future generations.

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

RNA splice sites are specific sequences on the pre-messenger RNA (pre-mRNA) molecule where the splicing process occurs during gene expression in eukaryotic cells. The pre-mRNA contains introns and exons, which are non-coding and coding regions of the RNA, respectively.

The splicing process removes the introns and joins together the exons to form a mature mRNA molecule that can be translated into a protein. The splice sites are recognized by the spliceosome, a complex of proteins and small nuclear RNAs (snRNAs) that catalyze the splicing reaction.

There are two main types of splice sites: the 5' splice site and the 3' splice site. The 5' splice site is located at the junction between the 5' end of the intron and the 3' end of the exon, while the 3' splice site is located at the junction between the 3' end of the intron and the 5' end of the exon.

The 5' splice site contains a conserved GU sequence, while the 3' splice site contains a conserved AG sequence. These sequences are recognized by the snRNAs in the spliceosome, which bind to them and facilitate the splicing reaction.

Mutations or variations in RNA splice sites can lead to abnormal splicing and result in diseases such as cancer, neurodegenerative disorders, and genetic disorders.

Mutation rate is the frequency at which spontaneous or induced genetic changes (mutations) occur in an organism's DNA or RNA. It is typically measured as the number of mutations per unit of time, such as per generation, per cell division, or per base pair. Mutation rates can vary widely depending on factors such as the specific gene or genomic region involved, the type of mutation (e.g., point mutation, insertion, deletion), and the environmental conditions.

Mutations can have a range of effects on an organism's fitness, from neutral to deleterious to beneficial. A high mutation rate can increase genetic diversity within a population but may also increase the risk of harmful mutations that can lead to diseases or reduced viability. Conversely, a low mutation rate can reduce genetic variation and limit the potential for adaptation to changing environments.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

A haplotype is a group of genes or DNA sequences that are inherited together from a single parent. It refers to a combination of alleles (variant forms of a gene) that are located on the same chromosome and are usually transmitted as a unit. Haplotypes can be useful in tracing genetic ancestry, understanding the genetic basis of diseases, and developing personalized medical treatments.

In population genetics, haplotypes are often used to study patterns of genetic variation within and between populations. By comparing haplotype frequencies across populations, researchers can infer historical events such as migrations, population expansions, and bottlenecks. Additionally, haplotypes can provide information about the evolutionary history of genes and genomic regions.

In clinical genetics, haplotypes can be used to identify genetic risk factors for diseases or to predict an individual's response to certain medications. For example, specific haplotypes in the HLA gene region have been associated with increased susceptibility to certain autoimmune diseases, while other haplotypes in the CYP450 gene family can affect how individuals metabolize drugs.

Overall, haplotypes provide a powerful tool for understanding the genetic basis of complex traits and diseases, as well as for developing personalized medical treatments based on an individual's genetic makeup.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

Introns are non-coding sequences of DNA that are present within the genes of eukaryotic organisms, including plants, animals, and humans. Introns are removed during the process of RNA splicing, in which the initial RNA transcript is cut and reconnected to form a mature, functional RNA molecule.

After the intron sequences are removed, the remaining coding sequences, known as exons, are joined together to create a continuous stretch of genetic information that can be translated into a protein or used to produce non-coding RNAs with specific functions. The removal of introns allows for greater flexibility in gene expression and regulation, enabling the generation of multiple proteins from a single gene through alternative splicing.

In summary, introns are non-coding DNA sequences within genes that are removed during RNA processing to create functional RNA molecules or proteins.

A nucleic acid database is a type of biological database that contains sequence, structure, and functional information about nucleic acids, such as DNA and RNA. These databases are used in various fields of biology, including genomics, molecular biology, and bioinformatics, to store, search, and analyze nucleic acid data.

Some common types of nucleic acid databases include:

1. Nucleotide sequence databases: These databases contain the primary nucleotide sequences of DNA and RNA molecules from various organisms. Examples include GenBank, EMBL-Bank, and DDBJ.
2. Structure databases: These databases contain three-dimensional structures of nucleic acids determined by experimental methods such as X-ray crystallography or nuclear magnetic resonance (NMR) spectroscopy. Examples include the Protein Data Bank (PDB) and the Nucleic Acid Database (NDB).
3. Functional databases: These databases contain information about the functions of nucleic acids, such as their roles in gene regulation, transcription, and translation. Examples include the Gene Ontology (GO) database and the RegulonDB.
4. Genome databases: These databases contain genomic data for various organisms, including whole-genome sequences, gene annotations, and genetic variations. Examples include the Human Genome Database (HGD) and the Ensembl Genome Browser.
5. Comparative databases: These databases allow for the comparison of nucleic acid sequences or structures across different species or conditions. Examples include the Comparative RNA Web (CRW) Site and the Sequence Alignment and Modeling (SAM) system.

Nucleic acid databases are essential resources for researchers to study the structure, function, and evolution of nucleic acids, as well as to develop new tools and methods for analyzing and interpreting nucleic acid data.

RNA splicing is a post-transcriptional modification process in which the non-coding sequences (introns) are removed and the coding sequences (exons) are joined together in a messenger RNA (mRNA) molecule. This results in a continuous mRNA sequence that can be translated into a single protein. Alternative splicing, where different combinations of exons are included or excluded, allows for the creation of multiple proteins from a single gene.

I'm sorry for any confusion, but "Internet" is a term that pertains to the global network of interconnected computers and servers that enable the transmission and reception of data via the internet protocol (IP). It is not a medical term and does not have a specific medical definition. If you have any questions related to medicine or health, I'd be happy to try to help answer them for you!

Gene deletion is a type of mutation where a segment of DNA, containing one or more genes, is permanently lost or removed from a chromosome. This can occur due to various genetic mechanisms such as homologous recombination, non-homologous end joining, or other types of genomic rearrangements.

The deletion of a gene can have varying effects on the organism, depending on the function of the deleted gene and its importance for normal physiological processes. If the deleted gene is essential for survival, the deletion may result in embryonic lethality or developmental abnormalities. However, if the gene is non-essential or has redundant functions, the deletion may not have any noticeable effects on the organism's phenotype.

Gene deletions can also be used as a tool in genetic research to study the function of specific genes and their role in various biological processes. For example, researchers may use gene deletion techniques to create genetically modified animal models to investigate the impact of gene deletion on disease progression or development.

'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

Genetic association studies are a type of epidemiological research that aims to identify statistical associations between genetic variations and particular traits or diseases. These studies typically compare the frequency of specific genetic markers, such as single nucleotide polymorphisms (SNPs), in individuals with a given trait or disease to those without it.

The goal of genetic association studies is to identify genetic factors that contribute to the risk of developing common complex diseases, such as diabetes, heart disease, or cancer. By identifying these genetic associations, researchers hope to gain insights into the underlying biological mechanisms of these diseases and develop new strategies for prevention, diagnosis, and treatment.

It's important to note that while genetic association studies can identify statistical associations between genetic markers and traits or diseases, they cannot prove causality. Further research is needed to confirm and validate these findings and to understand the functional consequences of the identified genetic variants.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

Myotonic dystrophy is a genetic disorder characterized by progressive muscle weakness, myotonia (delayed relaxation of muscles after contraction), and other symptoms. It is caused by an expansion of repetitive DNA sequences in the DMPK gene on chromosome 19 (type 1) or the ZNF9 gene on chromosome 3 (type 2). These expansions result in abnormal protein production and accumulation, which disrupt muscle function and can also affect other organs such as the heart, eyes, and endocrine system. Myotonic dystrophy is a progressive disease, meaning that symptoms tend to worsen over time. It is typically divided into two types: myotonic dystrophy type 1 (DM1), which is more common and severe, and myotonic dystrophy type 2 (DM2), which tends to be milder with a later onset of symptoms.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

A sequence deletion in a genetic context refers to the removal or absence of one or more nucleotides (the building blocks of DNA or RNA) from a specific region in a DNA or RNA molecule. This type of mutation can lead to the loss of genetic information, potentially resulting in changes in the function or expression of a gene. If the deletion involves a critical portion of the gene, it can cause diseases, depending on the role of that gene in the body. The size of the deleted sequence can vary, ranging from a single nucleotide to a large segment of DNA.

Alpha 1-antitrypsin (AAT, or α1-antiproteinase, A1AP) is a protein that is primarily produced by the liver and released into the bloodstream. It belongs to a group of proteins called serine protease inhibitors, which help regulate inflammation and protect tissues from damage caused by enzymes involved in the immune response.

Alpha 1-antitrypsin is particularly important for protecting the lungs from damage caused by neutrophil elastase, an enzyme released by white blood cells called neutrophils during inflammation. In the lungs, AAT binds to and inhibits neutrophil elastase, preventing it from degrading the extracellular matrix and damaging lung tissue.

Deficiency in alpha 1-antitrypsin can lead to chronic obstructive pulmonary disease (COPD) and liver disease. The most common cause of AAT deficiency is a genetic mutation that results in abnormal folding and accumulation of the protein within liver cells, leading to reduced levels of functional AAT in the bloodstream. This condition is called alpha 1-antitrypsin deficiency (AATD) and can be inherited in an autosomal codominant manner. Individuals with severe AATD may require augmentation therapy with intravenous infusions of purified human AAT to help prevent lung damage.

I'm sorry for any confusion, but "Jews" is not a medical term. It is a term used to describe a group of people who share cultural, religious, and ethnic heritage. The Jewish people originated from the ancient kingdoms of Israel and Judah. They are bound together by their religion, Judaism, which is based on the Torah, or the five books of Moses.

If you have any medical questions or terms that you would like defined, I'd be happy to help!

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

Aminoglycosides are a class of antibiotics that are derived from bacteria and are used to treat various types of infections caused by gram-negative and some gram-positive bacteria. These antibiotics work by binding to the 30S subunit of the bacterial ribosome, which inhibits protein synthesis and ultimately leads to bacterial cell death.

Some examples of aminoglycosides include gentamicin, tobramycin, neomycin, and streptomycin. These antibiotics are often used in combination with other antibiotics to treat severe infections, such as sepsis, pneumonia, and urinary tract infections.

Aminoglycosides can have serious side effects, including kidney damage and hearing loss, so they are typically reserved for use in serious infections that cannot be treated with other antibiotics. They are also used topically to treat skin infections and prevent wound infections after surgery.

It's important to note that aminoglycosides should only be used under the supervision of a healthcare professional, as improper use can lead to antibiotic resistance and further health complications.

Medical ethics is a branch of ethics that deals with moral issues in medical care, research, and practice. It provides a framework for addressing questions related to patient autonomy, informed consent, confidentiality, distributive justice, beneficentia (doing good), and non-maleficence (not doing harm). Medical ethics also involves the application of ethical principles such as respect for persons, beneficence, non-maleficence, and justice to specific medical cases and situations. It is a crucial component of medical education and practice, helping healthcare professionals make informed decisions that promote patient well-being while respecting their rights and dignity.

Phenylalanine Hydroxylase (PAH) is an enzyme that plays a crucial role in the metabolism of the essential amino acid phenylalanine. This enzyme is primarily found in the liver and is responsible for converting phenylalanine into tyrosine, another amino acid. PAH requires a cofactor called tetrahydrobiopterin (BH4) to function properly.

Defects or mutations in the gene that encodes PAH can lead to a genetic disorder known as Phenylketonuria (PKU). In PKU, the activity of PAH is significantly reduced or absent, causing an accumulation of phenylalanine in the body. If left untreated, this condition can result in severe neurological damage and intellectual disability due to the toxic effects of high phenylalanine levels on the developing brain. A strict low-phenylalanine diet and regular monitoring of blood phenylalanine levels are essential for managing PKU and preventing associated complications.

Globins are a group of proteins that contain a heme prosthetic group, which binds and transports oxygen in the blood. The most well-known globin is hemoglobin, which is found in red blood cells and is responsible for carrying oxygen from the lungs to the body's tissues. Other members of the globin family include myoglobin, which is found in muscle tissue and stores oxygen, and neuroglobin and cytoglobin, which are found in the brain and other organs and may have roles in protecting against oxidative stress and hypoxia (low oxygen levels). Globins share a similar structure, with a folded protein surrounding a central heme group. Mutations in globin genes can lead to various diseases, such as sickle cell anemia and thalassemia.

I believe there might be a misunderstanding in your question. "Dogs" is not a medical term or condition. It is the common name for a domesticated carnivore of the family Canidae, specifically the genus Canis, which includes wolves, foxes, and other extant and extinct species of mammals. Dogs are often kept as pets and companions, and they have been bred in a wide variety of forms and sizes for different purposes, such as hunting, herding, guarding, assisting police and military forces, and providing companionship and emotional support.

If you meant to ask about a specific medical condition or term related to dogs, please provide more context so I can give you an accurate answer.

Oligonucleotide Array Sequence Analysis is a type of microarray analysis that allows for the simultaneous measurement of the expression levels of thousands of genes in a single sample. In this technique, oligonucleotides (short DNA sequences) are attached to a solid support, such as a glass slide, in a specific pattern. These oligonucleotides are designed to be complementary to specific target mRNA sequences from the sample being analyzed.

During the analysis, labeled RNA or cDNA from the sample is hybridized to the oligonucleotide array. The level of hybridization is then measured and used to determine the relative abundance of each target sequence in the sample. This information can be used to identify differences in gene expression between samples, which can help researchers understand the underlying biological processes involved in various diseases or developmental stages.

It's important to note that this technique requires specialized equipment and bioinformatics tools for data analysis, as well as careful experimental design and validation to ensure accurate and reproducible results.

Signal transduction is the process by which a cell converts an extracellular signal, such as a hormone or neurotransmitter, into an intracellular response. This involves a series of molecular events that transmit the signal from the cell surface to the interior of the cell, ultimately resulting in changes in gene expression, protein activity, or metabolism.

The process typically begins with the binding of the extracellular signal to a receptor located on the cell membrane. This binding event activates the receptor, which then triggers a cascade of intracellular signaling molecules, such as second messengers, protein kinases, and ion channels. These molecules amplify and propagate the signal, ultimately leading to the activation or inhibition of specific cellular responses.

Signal transduction pathways are highly regulated and can be modulated by various factors, including other signaling molecules, post-translational modifications, and feedback mechanisms. Dysregulation of these pathways has been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.

DNA primers are short single-stranded DNA molecules that serve as a starting point for DNA synthesis. They are typically used in laboratory techniques such as the polymerase chain reaction (PCR) and DNA sequencing. The primer binds to a complementary sequence on the DNA template through base pairing, providing a free 3'-hydroxyl group for the DNA polymerase enzyme to add nucleotides and synthesize a new strand of DNA. This allows for specific and targeted amplification or analysis of a particular region of interest within a larger DNA molecule.

Human chromosome pair 16 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 16 contains two homologous chromosomes, which are similar in size, shape, and genetic content but may have slight variations due to differences in the DNA sequences inherited from each parent.

Chromosome pair 16 is one of the 22 autosomal pairs, meaning it contains non-sex chromosomes that are present in both males and females. Chromosome 16 is a medium-sized chromosome, and it contains around 2,800 genes that provide instructions for making proteins and regulating various cellular processes.

Abnormalities in chromosome pair 16 can lead to genetic disorders such as chronic myeloid leukemia, some forms of mental retardation, and other developmental abnormalities.

A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.

Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.

It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Tertiary protein structure refers to the three-dimensional arrangement of all the elements (polypeptide chains) of a single protein molecule. It is the highest level of structural organization and results from interactions between various side chains (R groups) of the amino acids that make up the protein. These interactions, which include hydrogen bonds, ionic bonds, van der Waals forces, and disulfide bridges, give the protein its unique shape and stability, which in turn determines its function. The tertiary structure of a protein can be stabilized by various factors such as temperature, pH, and the presence of certain ions. Any changes in these factors can lead to denaturation, where the protein loses its tertiary structure and thus its function.

Alternative splicing is a process in molecular biology that occurs during the post-transcriptional modification of pre-messenger RNA (pre-mRNA) molecules. It involves the removal of non-coding sequences, known as introns, and the joining together of coding sequences, or exons, to form a mature messenger RNA (mRNA) molecule that can be translated into a protein.

In alternative splicing, different combinations of exons are selected and joined together to create multiple distinct mRNA transcripts from a single pre-mRNA template. This process increases the diversity of proteins that can be produced from a limited number of genes, allowing for greater functional complexity in organisms.

Alternative splicing is regulated by various cis-acting elements and trans-acting factors that bind to specific sequences in the pre-mRNA molecule and influence which exons are included or excluded during splicing. Abnormal alternative splicing has been implicated in several human diseases, including cancer, neurological disorders, and cardiovascular disease.

Hematologic diseases, also known as hematological disorders, refer to a group of conditions that affect the production, function, or destruction of blood cells or blood-related components, such as plasma. These diseases can affect erythrocytes (red blood cells), leukocytes (white blood cells), and platelets (thrombocytes), as well as clotting factors and hemoglobin.

Hematologic diseases can be broadly categorized into three main types:

1. Anemia: A condition characterized by a decrease in the total red blood cell count, hemoglobin, or hematocrit, leading to insufficient oxygen transport to tissues and organs. Examples include iron deficiency anemia, sickle cell anemia, and aplastic anemia.
2. Leukemia and other disorders of white blood cells: These conditions involve the abnormal production or function of leukocytes, which can lead to impaired immunity and increased susceptibility to infections. Examples include leukemias (acute lymphoblastic leukemia, chronic myeloid leukemia), lymphomas, and myelodysplastic syndromes.
3. Platelet and clotting disorders: These diseases affect the production or function of platelets and clotting factors, leading to abnormal bleeding or clotting tendencies. Examples include hemophilia, von Willebrand disease, thrombocytopenia, and disseminated intravascular coagulation (DIC).

Hematologic diseases can have various causes, including genetic defects, infections, autoimmune processes, environmental factors, or malignancies. Proper diagnosis and management of these conditions often require the expertise of hematologists, who specialize in diagnosing and treating disorders related to blood and its components.

An amino acid substitution is a type of mutation in which one amino acid in a protein is replaced by another. This occurs when there is a change in the DNA sequence that codes for a particular amino acid in a protein. The genetic code is redundant, meaning that most amino acids are encoded by more than one codon (a sequence of three nucleotides). As a result, a single base pair change in the DNA sequence may not necessarily lead to an amino acid substitution. However, if a change does occur, it can have a variety of effects on the protein's structure and function, depending on the nature of the substituted amino acids. Some substitutions may be harmless, while others may alter the protein's activity or stability, leading to disease.

A transgene is a segment of DNA that has been artificially transferred from one organism to another, typically between different species, to introduce a new trait or characteristic. The term "transgene" specifically refers to the genetic material that has been transferred and has become integrated into the host organism's genome. This technology is often used in genetic engineering and biomedical research, including the development of genetically modified organisms (GMOs) for agricultural purposes or the creation of animal models for studying human diseases.

Transgenes can be created using various techniques, such as molecular cloning, where a desired gene is isolated, manipulated, and then inserted into a vector (a small DNA molecule, such as a plasmid) that can efficiently enter the host organism's cells. Once inside the cell, the transgene can integrate into the host genome, allowing for the expression of the new trait in the resulting transgenic organism.

It is important to note that while transgenes can provide valuable insights and benefits in research and agriculture, their use and release into the environment are subjects of ongoing debate due to concerns about potential ecological impacts and human health risks.

A gene is a specific sequence of nucleotides in DNA that carries genetic information. Genes are the fundamental units of heredity and are responsible for the development and function of all living organisms. They code for proteins or RNA molecules, which carry out various functions within cells and are essential for the structure, function, and regulation of the body's tissues and organs.

Each gene has a specific location on a chromosome, and each person inherits two copies of every gene, one from each parent. Variations in the sequence of nucleotides in a gene can lead to differences in traits between individuals, including physical characteristics, susceptibility to disease, and responses to environmental factors.

Medical genetics is the study of genes and their role in health and disease. It involves understanding how genes contribute to the development and progression of various medical conditions, as well as identifying genetic risk factors and developing strategies for prevention, diagnosis, and treatment.

Fibroblasts are specialized cells that play a critical role in the body's immune response and wound healing process. They are responsible for producing and maintaining the extracellular matrix (ECM), which is the non-cellular component present within all tissues and organs, providing structural support and biochemical signals for surrounding cells.

Fibroblasts produce various ECM proteins such as collagens, elastin, fibronectin, and laminins, forming a complex network of fibers that give tissues their strength and flexibility. They also help in the regulation of tissue homeostasis by controlling the turnover of ECM components through the process of remodeling.

In response to injury or infection, fibroblasts become activated and start to proliferate rapidly, migrating towards the site of damage. Here, they participate in the inflammatory response, releasing cytokines and chemokines that attract immune cells to the area. Additionally, they deposit new ECM components to help repair the damaged tissue and restore its functionality.

Dysregulation of fibroblast activity has been implicated in several pathological conditions, including fibrosis (excessive scarring), cancer (where they can contribute to tumor growth and progression), and autoimmune diseases (such as rheumatoid arthritis).

Protein interaction maps are graphical representations that illustrate the physical interactions and functional relationships between different proteins in a cell or organism. These maps can be generated through various experimental techniques such as yeast two-hybrid screens, affinity purification mass spectrometry (AP-MS), and co-immunoprecipitation (Co-IP) followed by mass spectrometry. The resulting data is then visualized as a network where nodes represent proteins and edges represent the interactions between them. Protein interaction maps can provide valuable insights into cellular processes, signal transduction pathways, and disease mechanisms, and are widely used in systems biology and network medicine research.

A Genome-Wide Association Study (GWAS) is an analytical approach used in genetic research to identify associations between genetic variants, typically Single Nucleotide Polymorphisms (SNPs), and specific traits or diseases across the entire genome. This method involves scanning the genomes of many individuals, usually thousands, to find genetic markers that occur more frequently in people with a particular disease or trait than in those without it.

The goal of a GWAS is to identify genetic loci (positions on chromosomes) associated with a trait or disease, which can help researchers understand the underlying genetic architecture and biological mechanisms contributing to the condition. It's important to note that while GWAS can identify associations between genetic variants and traits/diseases, these studies do not necessarily prove causation. Further functional validation studies are often required to confirm the role of identified genetic variants in the development or progression of a trait or disease.

An oligonucleotide probe is a short, single-stranded DNA or RNA molecule that contains a specific sequence of nucleotides designed to hybridize with a complementary sequence in a target nucleic acid (DNA or RNA). These probes are typically 15-50 nucleotides long and are used in various molecular biology techniques, such as polymerase chain reaction (PCR), DNA sequencing, microarray analysis, and blotting methods.

Oligonucleotide probes can be labeled with various reporter molecules, like fluorescent dyes or radioactive isotopes, to enable the detection of hybridized targets. The high specificity of oligonucleotide probes allows for the precise identification and quantification of target nucleic acids in complex biological samples, making them valuable tools in diagnostic, research, and forensic applications.

In genetics, sequence alignment is the process of arranging two or more DNA, RNA, or protein sequences to identify regions of similarity or homology between them. This is often done using computational methods to compare the nucleotide or amino acid sequences and identify matching patterns, which can provide insight into evolutionary relationships, functional domains, or potential genetic disorders. The alignment process typically involves adjusting gaps and mismatches in the sequences to maximize the similarity between them, resulting in an aligned sequence that can be visually represented and analyzed.

Gene expression profiling is a laboratory technique used to measure the activity (expression) of thousands of genes at once. This technique allows researchers and clinicians to identify which genes are turned on or off in a particular cell, tissue, or organism under specific conditions, such as during health, disease, development, or in response to various treatments.

The process typically involves isolating RNA from the cells or tissues of interest, converting it into complementary DNA (cDNA), and then using microarray or high-throughput sequencing technologies to determine which genes are expressed and at what levels. The resulting data can be used to identify patterns of gene expression that are associated with specific biological states or processes, providing valuable insights into the underlying molecular mechanisms of diseases and potential targets for therapeutic intervention.

In recent years, gene expression profiling has become an essential tool in various fields, including cancer research, drug discovery, and personalized medicine, where it is used to identify biomarkers of disease, predict patient outcomes, and guide treatment decisions.

Restriction Fragment Length Polymorphism (RFLP) is a term used in molecular biology and genetics. It refers to the presence of variations in DNA sequences among individuals, which can be detected by restriction enzymes. These enzymes cut DNA at specific sites, creating fragments of different lengths.

In RFLP analysis, DNA is isolated from an individual and treated with a specific restriction enzyme that cuts the DNA at particular recognition sites. The resulting fragments are then separated by size using gel electrophoresis, creating a pattern unique to that individual's DNA. If there are variations in the DNA sequence between individuals, the restriction enzyme may cut the DNA at different sites, leading to differences in the length of the fragments and thus, a different pattern on the gel.

These variations can be used for various purposes, such as identifying individuals, diagnosing genetic diseases, or studying evolutionary relationships between species. However, RFLP analysis has largely been replaced by more modern techniques like polymerase chain reaction (PCR)-based methods and DNA sequencing, which offer higher resolution and throughput.

Molecular cloning is a laboratory technique used to create multiple copies of a specific DNA sequence. This process involves several steps:

1. Isolation: The first step in molecular cloning is to isolate the DNA sequence of interest from the rest of the genomic DNA. This can be done using various methods such as PCR (polymerase chain reaction), restriction enzymes, or hybridization.
2. Vector construction: Once the DNA sequence of interest has been isolated, it must be inserted into a vector, which is a small circular DNA molecule that can replicate independently in a host cell. Common vectors used in molecular cloning include plasmids and phages.
3. Transformation: The constructed vector is then introduced into a host cell, usually a bacterial or yeast cell, through a process called transformation. This can be done using various methods such as electroporation or chemical transformation.
4. Selection: After transformation, the host cells are grown in selective media that allow only those cells containing the vector to grow. This ensures that the DNA sequence of interest has been successfully cloned into the vector.
5. Amplification: Once the host cells have been selected, they can be grown in large quantities to amplify the number of copies of the cloned DNA sequence.

Molecular cloning is a powerful tool in molecular biology and has numerous applications, including the production of recombinant proteins, gene therapy, functional analysis of genes, and genetic engineering.

Protein binding, in the context of medical and biological sciences, refers to the interaction between a protein and another molecule (known as the ligand) that results in a stable complex. This process is often reversible and can be influenced by various factors such as pH, temperature, and concentration of the involved molecules.

In clinical chemistry, protein binding is particularly important when it comes to drugs, as many of them bind to proteins (especially albumin) in the bloodstream. The degree of protein binding can affect a drug's distribution, metabolism, and excretion, which in turn influence its therapeutic effectiveness and potential side effects.

Protein-bound drugs may be less available for interaction with their target tissues, as only the unbound or "free" fraction of the drug is active. Therefore, understanding protein binding can help optimize dosing regimens and minimize adverse reactions.

A fetus is the developing offspring in a mammal, from the end of the embryonic period (approximately 8 weeks after fertilization in humans) until birth. In humans, the fetal stage of development starts from the eleventh week of pregnancy and continues until childbirth, which is termed as full-term pregnancy at around 37 to 40 weeks of gestation. During this time, the organ systems become fully developed and the body grows in size. The fetus is surrounded by the amniotic fluid within the amniotic sac and is connected to the placenta via the umbilical cord, through which it receives nutrients and oxygen from the mother. Regular prenatal care is essential during this period to monitor the growth and development of the fetus and ensure a healthy pregnancy and delivery.

Genomic instability is a term used in genetics and molecular biology to describe a state of increased susceptibility to genetic changes or mutations in the genome. It can be defined as a condition where the integrity and stability of the genome are compromised, leading to an increased rate of DNA alterations such as point mutations, insertions, deletions, and chromosomal rearrangements.

Genomic instability is a hallmark of cancer cells and can also be observed in various other diseases, including genetic disorders and aging. It can arise due to defects in the DNA repair mechanisms, telomere maintenance, epigenetic regulation, or chromosome segregation during cell division. These defects can result from inherited genetic mutations, acquired somatic mutations, exposure to environmental mutagens, or age-related degenerative changes.

Genomic instability is a significant factor in the development and progression of cancer as it promotes the accumulation of oncogenic mutations that contribute to tumor initiation, growth, and metastasis. Therefore, understanding the mechanisms underlying genomic instability is crucial for developing effective strategies for cancer prevention, diagnosis, and treatment.

HeLa cells are a type of immortalized cell line used in scientific research. They are derived from a cancer that developed in the cervical tissue of Henrietta Lacks, an African-American woman, in 1951. After her death, cells taken from her tumor were found to be capable of continuous division and growth in a laboratory setting, making them an invaluable resource for medical research.

HeLa cells have been used in a wide range of scientific studies, including research on cancer, viruses, genetics, and drug development. They were the first human cell line to be successfully cloned and are able to grow rapidly in culture, doubling their population every 20-24 hours. This has made them an essential tool for many areas of biomedical research.

It is important to note that while HeLa cells have been instrumental in numerous scientific breakthroughs, the story of their origin raises ethical questions about informed consent and the use of human tissue in research.

Tumor suppressor proteins are a type of regulatory protein that helps control the cell cycle and prevent cells from dividing and growing in an uncontrolled manner. They work to inhibit tumor growth by preventing the formation of tumors or slowing down their progression. These proteins can repair damaged DNA, regulate gene expression, and initiate programmed cell death (apoptosis) if the damage is too severe for repair.

Mutations in tumor suppressor genes, which provide the code for these proteins, can lead to a decrease or loss of function in the resulting protein. This can result in uncontrolled cell growth and division, leading to the formation of tumors and cancer. Examples of tumor suppressor proteins include p53, Rb (retinoblastoma), and BRCA1/2.

Repetitive sequences in nucleic acid refer to repeated stretches of DNA or RNA nucleotide bases that are present in a genome. These sequences can vary in length and can be arranged in different patterns such as direct repeats, inverted repeats, or tandem repeats. In some cases, these repetitive sequences do not code for proteins and are often found in non-coding regions of the genome. They can play a role in genetic instability, regulation of gene expression, and evolutionary processes. However, certain types of repeat expansions have been associated with various neurodegenerative disorders and other human diseases.

Retinitis pigmentosa (RP) is a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina - a light-sensitive tissue located at the back of the eye. The retina converts light into electrical signals which are then sent to the brain and interpreted as visual images.

In RP, the cells that detect light (rods and cones) degenerate more slowly than other cells in the retina, leading to a progressive loss of vision. Symptoms typically begin in childhood with night blindness (difficulty seeing in low light), followed by a gradual narrowing of the visual field (tunnel vision). Over time, this can lead to significant vision loss and even blindness.

The condition is usually inherited and there are several different genes that have been associated with RP. The diagnosis is typically made based on a combination of genetic testing, family history, and clinical examination. Currently, there is no cure for RP, but researchers are actively working to develop new treatments that may help slow or stop the progression of the disease.

Transfection is a term used in molecular biology that refers to the process of deliberately introducing foreign genetic material (DNA, RNA or artificial gene constructs) into cells. This is typically done using chemical or physical methods, such as lipofection or electroporation. Transfection is widely used in research and medical settings for various purposes, including studying gene function, producing proteins, developing gene therapies, and creating genetically modified organisms. It's important to note that transfection is different from transduction, which is the process of introducing genetic material into cells using viruses as vectors.

The liver is a large, solid organ located in the upper right portion of the abdomen, beneath the diaphragm and above the stomach. It plays a vital role in several bodily functions, including:

1. Metabolism: The liver helps to metabolize carbohydrates, fats, and proteins from the food we eat into energy and nutrients that our bodies can use.
2. Detoxification: The liver detoxifies harmful substances in the body by breaking them down into less toxic forms or excreting them through bile.
3. Synthesis: The liver synthesizes important proteins, such as albumin and clotting factors, that are necessary for proper bodily function.
4. Storage: The liver stores glucose, vitamins, and minerals that can be released when the body needs them.
5. Bile production: The liver produces bile, a digestive juice that helps to break down fats in the small intestine.
6. Immune function: The liver plays a role in the immune system by filtering out bacteria and other harmful substances from the blood.

Overall, the liver is an essential organ that plays a critical role in maintaining overall health and well-being.

Oligonucleotides are short sequences of nucleotides, the building blocks of DNA and RNA. They typically contain fewer than 100 nucleotides, and can be synthesized chemically to have specific sequences. Oligonucleotides are used in a variety of applications in molecular biology, including as probes for detecting specific DNA or RNA sequences, as inhibitors of gene expression, and as components of diagnostic tests and therapies. They can also be used in the study of protein-nucleic acid interactions and in the development of new drugs.

Sickle cell anemia is a genetic disorder that affects the hemoglobin in red blood cells. Hemoglobin is responsible for carrying oxygen throughout the body. In sickle cell anemia, the hemoglobin is abnormal and causes the red blood cells to take on a sickle shape, rather than the normal disc shape. These sickled cells are stiff and sticky, and they can block blood vessels, causing tissue damage and pain. They also die more quickly than normal red blood cells, leading to anemia.

People with sickle cell anemia often experience fatigue, chronic pain, and jaundice. They may also have a higher risk of infections and complications such as stroke, acute chest syndrome, and priapism. The disease is inherited from both parents, who must both be carriers of the sickle cell gene. It primarily affects people of African descent, but it can also affect people from other ethnic backgrounds.

There is no cure for sickle cell anemia, but treatments such as blood transfusions, medications to manage pain and prevent complications, and bone marrow transplantation can help improve quality of life for affected individuals. Regular medical care and monitoring are essential for managing the disease effectively.

Statistical models are mathematical representations that describe the relationship between variables in a given dataset. They are used to analyze and interpret data in order to make predictions or test hypotheses about a population. In the context of medicine, statistical models can be used for various purposes such as:

1. Disease risk prediction: By analyzing demographic, clinical, and genetic data using statistical models, researchers can identify factors that contribute to an individual's risk of developing certain diseases. This information can then be used to develop personalized prevention strategies or early detection methods.

2. Clinical trial design and analysis: Statistical models are essential tools for designing and analyzing clinical trials. They help determine sample size, allocate participants to treatment groups, and assess the effectiveness and safety of interventions.

3. Epidemiological studies: Researchers use statistical models to investigate the distribution and determinants of health-related events in populations. This includes studying patterns of disease transmission, evaluating public health interventions, and estimating the burden of diseases.

4. Health services research: Statistical models are employed to analyze healthcare utilization, costs, and outcomes. This helps inform decisions about resource allocation, policy development, and quality improvement initiatives.

5. Biostatistics and bioinformatics: In these fields, statistical models are used to analyze large-scale molecular data (e.g., genomics, proteomics) to understand biological processes and identify potential therapeutic targets.

In summary, statistical models in medicine provide a framework for understanding complex relationships between variables and making informed decisions based on data-driven insights.

In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.

The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.

FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.

Gene dosage, in genetic terms, refers to the number of copies of a particular gene present in an organism's genome. Each gene usually has two copies (alleles) in diploid organisms, one inherited from each parent. An increase or decrease in the number of copies of a specific gene can lead to changes in the amount of protein it encodes, which can subsequently affect various biological processes and phenotypic traits.

For example, gene dosage imbalances have been associated with several genetic disorders, such as Down syndrome (trisomy 21), where an individual has three copies of chromosome 21 instead of the typical two copies, leading to developmental delays and intellectual disabilities. Similarly, in certain cases of cancer, gene amplification (an increase in the number of copies of a particular gene) can result in overexpression of oncogenes, contributing to tumor growth and progression.

Cilia are tiny, hair-like structures that protrude from the surface of many types of cells in the body. They are composed of a core bundle of microtubules surrounded by a protein matrix and are covered with a membrane. Cilia are involved in various cellular functions, including movement of fluid or mucus across the cell surface, detection of external stimuli, and regulation of signaling pathways.

There are two types of cilia: motile and non-motile. Motile cilia are able to move in a coordinated manner to propel fluids or particles across a surface, such as those found in the respiratory tract and reproductive organs. Non-motile cilia, also known as primary cilia, are present on most cells in the body and serve as sensory organelles that detect chemical and mechanical signals from the environment.

Defects in cilia structure or function can lead to a variety of diseases, collectively known as ciliopathies. These conditions can affect multiple organs and systems in the body, including the brain, kidneys, liver, and eyes. Examples of ciliopathies include polycystic kidney disease, Bardet-Biedl syndrome, and Meckel-Gruber syndrome.

Genetic transcription is the process by which the information in a strand of DNA is used to create a complementary RNA molecule. This process is the first step in gene expression, where the genetic code in DNA is converted into a form that can be used to produce proteins or functional RNAs.

During transcription, an enzyme called RNA polymerase binds to the DNA template strand and reads the sequence of nucleotide bases. As it moves along the template, it adds complementary RNA nucleotides to the growing RNA chain, creating a single-stranded RNA molecule that is complementary to the DNA template strand. Once transcription is complete, the RNA molecule may undergo further processing before it can be translated into protein or perform its functional role in the cell.

Transcription can be either "constitutive" or "regulated." Constitutive transcription occurs at a relatively constant rate and produces essential proteins that are required for basic cellular functions. Regulated transcription, on the other hand, is subject to control by various intracellular and extracellular signals, allowing cells to respond to changing environmental conditions or developmental cues.

Thalassemia is a group of inherited genetic disorders that affect the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disorder results in less efficient or abnormal hemoglobin, which can lead to anemia, an insufficient supply of oxygen-rich red blood cells.

There are two main types of Thalassemia: alpha and beta. Alpha thalassemia occurs when there is a problem with the alpha globin chain production, while beta thalassemia results from issues in beta globin chain synthesis. These disorders can range from mild to severe, depending on the number of genes affected and their specific mutations.

Severe forms of Thalassemia may require regular blood transfusions, iron chelation therapy, or even a bone marrow transplant to manage symptoms and prevent complications.

A multigene family is a group of genetically related genes that share a common ancestry and have similar sequences or structures. These genes are arranged in clusters on a chromosome and often encode proteins with similar functions. They can arise through various mechanisms, including gene duplication, recombination, and transposition. Multigene families play crucial roles in many biological processes, such as development, immunity, and metabolism. Examples of multigene families include the globin genes involved in oxygen transport, the immune system's major histocompatibility complex (MHC) genes, and the cytochrome P450 genes associated with drug metabolism.

DNA damage refers to any alteration in the structure or composition of deoxyribonucleic acid (DNA), which is the genetic material present in cells. DNA damage can result from various internal and external factors, including environmental exposures such as ultraviolet radiation, tobacco smoke, and certain chemicals, as well as normal cellular processes such as replication and oxidative metabolism.

Examples of DNA damage include base modifications, base deletions or insertions, single-strand breaks, double-strand breaks, and crosslinks between the two strands of the DNA helix. These types of damage can lead to mutations, genomic instability, and chromosomal aberrations, which can contribute to the development of diseases such as cancer, neurodegenerative disorders, and aging-related conditions.

The body has several mechanisms for repairing DNA damage, including base excision repair, nucleotide excision repair, mismatch repair, and double-strand break repair. However, if the damage is too extensive or the repair mechanisms are impaired, the cell may undergo apoptosis (programmed cell death) to prevent the propagation of potentially harmful mutations.

Spermatozoa are the male reproductive cells, or gametes, that are produced in the testes. They are microscopic, flagellated (tail-equipped) cells that are highly specialized for fertilization. A spermatozoon consists of a head, neck, and tail. The head contains the genetic material within the nucleus, covered by a cap-like structure called the acrosome which contains enzymes to help the sperm penetrate the female's egg (ovum). The long, thin tail propels the sperm forward through fluid, such as semen, enabling its journey towards the egg for fertilization.

Gene duplication, in the context of genetics and genomics, refers to an event where a segment of DNA that contains a gene is copied, resulting in two identical copies of that gene. This can occur through various mechanisms such as unequal crossing over during meiosis, retrotransposition, or whole genome duplication. The duplicate genes are then passed on to the next generation.

Gene duplications can have several consequences. Often, one copy may continue to function normally while the other is free to mutate without affecting the organism's survival, potentially leading to new functions (neofunctionalization) or subfunctionalization where each copy takes on some of the original gene's roles.

Gene duplication plays a significant role in evolution by providing raw material for the creation of novel genes and genetic diversity. However, it can also lead to various genetic disorders if multiple copies of a gene become dysfunctional or if there are too many copies, leading to an overdose effect.

Mitochondrial DNA (mtDNA) is the genetic material present in the mitochondria, which are specialized structures within cells that generate energy. Unlike nuclear DNA, which is present in the cell nucleus and inherited from both parents, mtDNA is inherited solely from the mother.

MtDNA is a circular molecule that contains 37 genes, including 13 genes that encode for proteins involved in oxidative phosphorylation, a process that generates energy in the form of ATP. The remaining genes encode for rRNAs and tRNAs, which are necessary for protein synthesis within the mitochondria.

Mutations in mtDNA can lead to a variety of genetic disorders, including mitochondrial diseases, which can affect any organ system in the body. These mutations can also be used in forensic science to identify individuals and establish biological relationships.

Induced Pluripotent Stem Cells (iPSCs) are a type of pluripotent stem cells that are generated from somatic cells, such as skin or blood cells, through the introduction of specific genes encoding transcription factors. These reprogrammed cells exhibit similar characteristics to embryonic stem cells, including the ability to differentiate into any cell type of the three germ layers (endoderm, mesoderm, and ectoderm). The discovery and development of iPSCs have opened up new possibilities in regenerative medicine, drug testing and development, and disease modeling, while avoiding ethical concerns associated with embryonic stem cells.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

The term "family" in a medical context often refers to a group of individuals who are related by blood, marriage, or adoption and who consider themselves to be a single household. This can include spouses, parents, children, siblings, grandparents, and other extended family members. In some cases, the term may also be used more broadly to refer to any close-knit group of people who provide emotional and social support for one another, regardless of their biological or legal relationship.

In healthcare settings, understanding a patient's family dynamics can be important for providing effective care. Family members may be involved in decision-making about medical treatments, providing care and support at home, and communicating with healthcare providers. Additionally, cultural beliefs and values within families can influence health behaviors and attitudes towards medical care, making it essential for healthcare professionals to take a culturally sensitive approach when working with patients and their families.

Reproducibility of results in a medical context refers to the ability to obtain consistent and comparable findings when a particular experiment or study is repeated, either by the same researcher or by different researchers, following the same experimental protocol. It is an essential principle in scientific research that helps to ensure the validity and reliability of research findings.

In medical research, reproducibility of results is crucial for establishing the effectiveness and safety of new treatments, interventions, or diagnostic tools. It involves conducting well-designed studies with adequate sample sizes, appropriate statistical analyses, and transparent reporting of methods and findings to allow other researchers to replicate the study and confirm or refute the results.

The lack of reproducibility in medical research has become a significant concern in recent years, as several high-profile studies have failed to produce consistent findings when replicated by other researchers. This has led to increased scrutiny of research practices and a call for greater transparency, rigor, and standardization in the conduct and reporting of medical research.

Molecular models are three-dimensional representations of molecular structures that are used in the field of molecular biology and chemistry to visualize and understand the spatial arrangement of atoms and bonds within a molecule. These models can be physical or computer-generated and allow researchers to study the shape, size, and behavior of molecules, which is crucial for understanding their function and interactions with other molecules.

Physical molecular models are often made up of balls (representing atoms) connected by rods or sticks (representing bonds). These models can be constructed manually using materials such as plastic or wooden balls and rods, or they can be created using 3D printing technology.

Computer-generated molecular models, on the other hand, are created using specialized software that allows researchers to visualize and manipulate molecular structures in three dimensions. These models can be used to simulate molecular interactions, predict molecular behavior, and design new drugs or chemicals with specific properties. Overall, molecular models play a critical role in advancing our understanding of molecular structures and their functions.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

An animal model in medicine refers to the use of non-human animals in experiments to understand, predict, and test responses and effects of various biological and chemical interactions that may also occur in humans. These models are used when studying complex systems or processes that cannot be easily replicated or studied in human subjects, such as genetic manipulation or exposure to harmful substances. The choice of animal model depends on the specific research question being asked and the similarities between the animal's and human's biological and physiological responses. Examples of commonly used animal models include mice, rats, rabbits, guinea pigs, and non-human primates.

Nuclear proteins are a category of proteins that are primarily found in the nucleus of a eukaryotic cell. They play crucial roles in various nuclear functions, such as DNA replication, transcription, repair, and RNA processing. This group includes structural proteins like lamins, which form the nuclear lamina, and regulatory proteins, such as histones and transcription factors, that are involved in gene expression. Nuclear localization signals (NLS) often help target these proteins to the nucleus by interacting with importin proteins during active transport across the nuclear membrane.

Drug delivery systems (DDS) refer to techniques or technologies that are designed to improve the administration of a pharmaceutical compound in terms of its efficiency, safety, and efficacy. A DDS can modify the drug release profile, target the drug to specific cells or tissues, protect the drug from degradation, and reduce side effects.

The goal of a DDS is to optimize the bioavailability of a drug, which is the amount of the drug that reaches the systemic circulation and is available at the site of action. This can be achieved through various approaches, such as encapsulating the drug in a nanoparticle or attaching it to a biomolecule that targets specific cells or tissues.

Some examples of DDS include:

1. Controlled release systems: These systems are designed to release the drug at a controlled rate over an extended period, reducing the frequency of dosing and improving patient compliance.
2. Targeted delivery systems: These systems use biomolecules such as antibodies or ligands to target the drug to specific cells or tissues, increasing its efficacy and reducing side effects.
3. Nanoparticle-based delivery systems: These systems use nanoparticles made of polymers, lipids, or inorganic materials to encapsulate the drug and protect it from degradation, improve its solubility, and target it to specific cells or tissues.
4. Biodegradable implants: These are small devices that can be implanted under the skin or into body cavities to deliver drugs over an extended period. They can be made of biodegradable materials that gradually break down and release the drug.
5. Inhalation delivery systems: These systems use inhalers or nebulizers to deliver drugs directly to the lungs, bypassing the digestive system and improving bioavailability.

Overall, DDS play a critical role in modern pharmaceutical research and development, enabling the creation of new drugs with improved efficacy, safety, and patient compliance.

Southern blotting is a type of membrane-based blotting technique that is used in molecular biology to detect and locate specific DNA sequences within a DNA sample. This technique is named after its inventor, Edward M. Southern.

In Southern blotting, the DNA sample is first digested with one or more restriction enzymes, which cut the DNA at specific recognition sites. The resulting DNA fragments are then separated based on their size by gel electrophoresis. After separation, the DNA fragments are denatured to convert them into single-stranded DNA and transferred onto a nitrocellulose or nylon membrane.

Once the DNA has been transferred to the membrane, it is hybridized with a labeled probe that is complementary to the sequence of interest. The probe can be labeled with radioactive isotopes, fluorescent dyes, or chemiluminescent compounds. After hybridization, the membrane is washed to remove any unbound probe and then exposed to X-ray film (in the case of radioactive probes) or scanned (in the case of non-radioactive probes) to detect the location of the labeled probe on the membrane.

The position of the labeled probe on the membrane corresponds to the location of the specific DNA sequence within the original DNA sample. Southern blotting is a powerful tool for identifying and characterizing specific DNA sequences, such as those associated with genetic diseases or gene regulation.

Chloride channels are membrane proteins that form hydrophilic pores or gaps, allowing the selective passage of chloride ions (Cl-) across the lipid bilayer of cell membranes. They play crucial roles in various physiological processes, including regulation of neuronal excitability, maintenance of resting membrane potential, fluid and electrolyte transport, and pH and volume regulation of cells.

Chloride channels can be categorized into several groups based on their structure, function, and mechanism of activation. Some of the major classes include:

1. Voltage-gated chloride channels (ClC): These channels are activated by changes in membrane potential and have a variety of functions, such as regulating neuronal excitability and transepithelial transport.
2. Ligand-gated chloride channels: These channels are activated by the binding of specific ligands or messenger molecules, like GABA (gamma-aminobutyric acid) or glycine, and are involved in neurotransmission and neuromodulation.
3. Cystic fibrosis transmembrane conductance regulator (CFTR): This is a chloride channel primarily located in the apical membrane of epithelial cells, responsible for secreting chloride ions and water to maintain proper hydration and mucociliary clearance in various organs, including the lungs and pancreas.
4. Calcium-activated chloride channels (CaCCs): These channels are activated by increased intracellular calcium concentrations and participate in various physiological processes, such as smooth muscle contraction, neurotransmitter release, and cell volume regulation.
5. Swelling-activated chloride channels (ClSwells): Also known as volume-regulated anion channels (VRACs), these channels are activated by cell swelling or osmotic stress and help regulate cell volume and ionic homeostasis.

Dysfunction of chloride channels has been implicated in various human diseases, such as cystic fibrosis, myotonia congenita, epilepsy, and certain forms of cancer.

RNA (Ribonucleic Acid) is a single-stranded, linear polymer of ribonucleotides. It is a nucleic acid present in the cells of all living organisms and some viruses. RNAs play crucial roles in various biological processes such as protein synthesis, gene regulation, and cellular signaling. There are several types of RNA including messenger RNA (mRNA), ribosomal RNA (rRNA), transfer RNA (tRNA), small nuclear RNA (snRNA), microRNA (miRNA), and long non-coding RNA (lncRNA). These RNAs differ in their structure, function, and location within the cell.

Nucleic acid conformation refers to the three-dimensional structure that nucleic acids (DNA and RNA) adopt as a result of the bonding patterns between the atoms within the molecule. The primary structure of nucleic acids is determined by the sequence of nucleotides, while the conformation is influenced by factors such as the sugar-phosphate backbone, base stacking, and hydrogen bonding.

Two common conformations of DNA are the B-form and the A-form. The B-form is a right-handed helix with a diameter of about 20 Ã… and a pitch of 34 Ã…, while the A-form has a smaller diameter (about 18 Ã…) and a shorter pitch (about 25 Ã…). RNA typically adopts an A-form conformation.

The conformation of nucleic acids can have significant implications for their function, as it can affect their ability to interact with other molecules such as proteins or drugs. Understanding the conformational properties of nucleic acids is therefore an important area of research in molecular biology and medicine.

Complementary DNA (cDNA) is a type of DNA that is synthesized from a single-stranded RNA molecule through the process of reverse transcription. In this process, the enzyme reverse transcriptase uses an RNA molecule as a template to synthesize a complementary DNA strand. The resulting cDNA is therefore complementary to the original RNA molecule and is a copy of its coding sequence, but it does not contain non-coding regions such as introns that are present in genomic DNA.

Complementary DNA is often used in molecular biology research to study gene expression, protein function, and other genetic phenomena. For example, cDNA can be used to create cDNA libraries, which are collections of cloned cDNA fragments that represent the expressed genes in a particular cell type or tissue. These libraries can then be screened for specific genes or gene products of interest. Additionally, cDNA can be used to produce recombinant proteins in heterologous expression systems, allowing researchers to study the structure and function of proteins that may be difficult to express or purify from their native sources.

A zebrafish is a freshwater fish species belonging to the family Cyprinidae and the genus Danio. Its name is derived from its distinctive striped pattern that resembles a zebra's. Zebrafish are often used as model organisms in scientific research, particularly in developmental biology, genetics, and toxicology studies. They have a high fecundity rate, transparent embryos, and a rapid development process, making them an ideal choice for researchers. However, it is important to note that providing a medical definition for zebrafish may not be entirely accurate or relevant since they are primarily used in biological research rather than clinical medicine.

Nucleic acid hybridization is a process in molecular biology where two single-stranded nucleic acids (DNA, RNA) with complementary sequences pair together to form a double-stranded molecule through hydrogen bonding. The strands can be from the same type of nucleic acid or different types (i.e., DNA-RNA or DNA-cDNA). This process is commonly used in various laboratory techniques, such as Southern blotting, Northern blotting, polymerase chain reaction (PCR), and microarray analysis, to detect, isolate, and analyze specific nucleic acid sequences. The hybridization temperature and conditions are critical to ensure the specificity of the interaction between the two strands.

Mutagenesis is the process by which the genetic material (DNA or RNA) of an organism is changed in a way that can alter its phenotype, or observable traits. These changes, known as mutations, can be caused by various factors such as chemicals, radiation, or viruses. Some mutations may have no effect on the organism, while others can cause harm, including diseases and cancer. Mutagenesis is a crucial area of study in genetics and molecular biology, with implications for understanding evolution, genetic disorders, and the development of new medical treatments.

"Family Health" is not a term that has a single, widely accepted medical definition. However, in the context of healthcare and public health, "family health" often refers to the physical, mental, and social well-being of all members of a family unit. It includes the assessment, promotion, and prevention of health conditions that affect individual family members as well as the family as a whole.

Family health may also encompass interventions and programs that aim to strengthen family relationships, communication, and functioning, as these factors can have a significant impact on overall health outcomes. Additionally, family health may involve addressing social determinants of health, such as poverty, housing, and access to healthcare, which can affect the health of families and communities.

Overall, family health is a holistic approach to healthcare that recognizes the importance of considering the needs and experiences of all family members in promoting and maintaining good health.

Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.

A lentivirus is a type of slow-acting retrovirus that can cause chronic diseases and cancers. The term "lentivirus" comes from the Latin word "lentus," which means slow. Lentiviruses are characterized by their ability to establish a persistent infection, during which they continuously produce new viral particles.

Lentiviruses have a complex genome that includes several accessory genes, in addition to the typical gag, pol, and env genes found in all retroviruses. These accessory genes play important roles in regulating the virus's replication cycle and evading the host's immune response.

One of the most well-known lentiviruses is the human immunodeficiency virus (HIV), which causes AIDS. Other examples include the feline immunodeficiency virus (FIV) and the simian immunodeficiency virus (SIV). Lentiviruses have also been used as vectors for gene therapy, as they can efficiently introduce new genes into both dividing and non-dividing cells.

'Information Storage and Retrieval' in the context of medical informatics refers to the processes and systems used for the recording, storing, organizing, protecting, and retrieving electronic health information (e.g., patient records, clinical data, medical images) for various purposes such as diagnosis, treatment planning, research, and education. This may involve the use of electronic health record (EHR) systems, databases, data warehouses, and other digital technologies that enable healthcare providers to access and share accurate, up-to-date, and relevant information about a patient's health status, medical history, and care plan. The goal is to improve the quality, safety, efficiency, and coordination of healthcare delivery by providing timely and evidence-based information to support clinical decision-making and patient engagement.

Nucleotides are the basic structural units of nucleic acids, such as DNA and RNA. They consist of a nitrogenous base (adenine, guanine, cytosine, thymine or uracil), a pentose sugar (ribose in RNA and deoxyribose in DNA) and one to three phosphate groups. Nucleotides are linked together by phosphodiester bonds between the sugar of one nucleotide and the phosphate group of another, forming long chains known as polynucleotides. The sequence of these nucleotides determines the genetic information carried in DNA and RNA, which is essential for the functioning, reproduction and survival of all living organisms.

DNA helicases are a group of enzymes that are responsible for separating the two strands of DNA during processes such as replication and transcription. They do this by unwinding the double helix structure of DNA, using energy from ATP to break the hydrogen bonds between the base pairs. This allows other proteins to access the individual strands of DNA and carry out functions such as copying the genetic code or transcribing it into RNA.

During replication, DNA helicases help to create a replication fork, where the two strands of DNA are separated and new complementary strands are synthesized. In transcription, DNA helicases help to unwind the DNA double helix at the promoter region, allowing the RNA polymerase enzyme to bind and begin transcribing the DNA into RNA.

DNA helicases play a crucial role in maintaining the integrity of the genetic code and are essential for the normal functioning of cells. Defects in DNA helicases have been linked to various diseases, including cancer and neurological disorders.

Microsatellite repeats, also known as short tandem repeats (STRs), are repetitive DNA sequences made up of units of 1-6 base pairs that are repeated in a head-to-tail manner. These repeats are spread throughout the human genome and are highly polymorphic, meaning they can have different numbers of repeat units in different individuals.

Microsatellites are useful as genetic markers because of their high degree of variability. They are commonly used in forensic science to identify individuals, in genealogy to trace ancestry, and in medical research to study genetic diseases and disorders. Mutations in microsatellite repeats have been associated with various neurological conditions, including Huntington's disease and fragile X syndrome.

Insertional mutagenesis is a process of introducing new genetic material into an organism's genome at a specific location, which can result in a change or disruption of the function of the gene at that site. This technique is often used in molecular biology research to study gene function and regulation. The introduction of the foreign DNA is typically accomplished through the use of mobile genetic elements, such as transposons or viruses, which are capable of inserting themselves into the genome.

The insertion of the new genetic material can lead to a loss or gain of function in the affected gene, resulting in a mutation. This type of mutagenesis is called "insertional" because the mutation is caused by the insertion of foreign DNA into the genome. The effects of insertional mutagenesis can range from subtle changes in gene expression to the complete inactivation of a gene.

This technique has been widely used in genetic research, including the study of developmental biology, cancer, and genetic diseases. It is also used in the development of genetically modified organisms (GMOs) for agricultural and industrial applications.

A "mutant strain of mice" in a medical context refers to genetically engineered mice that have specific genetic mutations introduced into their DNA. These mutations can be designed to mimic certain human diseases or conditions, allowing researchers to study the underlying biological mechanisms and test potential therapies in a controlled laboratory setting.

Mutant strains of mice are created through various techniques, including embryonic stem cell manipulation, gene editing technologies such as CRISPR-Cas9, and radiation-induced mutagenesis. These methods allow scientists to introduce specific genetic changes into the mouse genome, resulting in mice that exhibit altered physiological or behavioral traits.

These strains of mice are widely used in biomedical research because their short lifespan, small size, and high reproductive rate make them an ideal model organism for studying human diseases. Additionally, the mouse genome has been well-characterized, and many genetic tools and resources are available to researchers working with these animals.

Examples of mutant strains of mice include those that carry mutations in genes associated with cancer, neurodegenerative disorders, metabolic diseases, and immunological conditions. These mice provide valuable insights into the pathophysiology of human diseases and help advance our understanding of potential therapeutic interventions.

Genetic transduction is a process in molecular biology that describes the transfer of genetic material from one bacterium to another by a viral vector called a bacteriophage (or phage). In this process, the phage infects one bacterium and incorporates a portion of the bacterial DNA into its own genetic material. When the phage then infects a second bacterium, it can transfer the incorporated bacterial DNA to the new host. This can result in the horizontal gene transfer (HGT) of traits such as antibiotic resistance or virulence factors between bacteria.

There are two main types of transduction: generalized and specialized. In generalized transduction, any portion of the bacterial genome can be packaged into the phage particle, leading to a random assortment of genetic material being transferred. In specialized transduction, only specific genes near the site where the phage integrates into the bacterial chromosome are consistently transferred.

It's important to note that genetic transduction is not to be confused with transformation or conjugation, which are other mechanisms of HGT in bacteria.

Linkage disequilibrium (LD) is a term used in genetics that refers to the non-random association of alleles at different loci (genetic locations) on a chromosome. This means that certain combinations of genetic variants, or alleles, at different loci occur more frequently together in a population than would be expected by chance.

Linkage disequilibrium can arise due to various factors such as genetic drift, selection, mutation, and population structure. It is often used in the context of genetic mapping studies to identify regions of the genome that are associated with particular traits or diseases. High levels of LD in a region of the genome suggest that the loci within that region are in linkage, meaning they tend to be inherited together.

The degree of LD between two loci can be measured using various statistical methods, such as D' and r-squared. These measures provide information about the strength and direction of the association between alleles at different loci, which can help researchers identify causal genetic variants underlying complex traits or diseases.

Carrier proteins, also known as transport proteins, are a type of protein that facilitates the movement of molecules across cell membranes. They are responsible for the selective and active transport of ions, sugars, amino acids, and other molecules from one side of the membrane to the other, against their concentration gradient. This process requires energy, usually in the form of ATP (adenosine triphosphate).

Carrier proteins have a specific binding site for the molecule they transport, and undergo conformational changes upon binding, which allows them to move the molecule across the membrane. Once the molecule has been transported, the carrier protein returns to its original conformation, ready to bind and transport another molecule.

Carrier proteins play a crucial role in maintaining the balance of ions and other molecules inside and outside of cells, and are essential for many physiological processes, including nerve impulse transmission, muscle contraction, and nutrient uptake.

Retroviridae is a family of viruses that includes human immunodeficiency virus (HIV) and other viruses that primarily use RNA as their genetic material. The name "retrovirus" comes from the fact that these viruses reverse transcribe their RNA genome into DNA, which then becomes integrated into the host cell's genome. This is a unique characteristic of retroviruses, as most other viruses use DNA as their genetic material.

Retroviruses can cause a variety of diseases in animals and humans, including cancer, neurological disorders, and immunodeficiency syndromes like AIDS. They have a lipid membrane envelope that contains glycoprotein spikes, which allow them to attach to and enter host cells. Once inside the host cell, the viral RNA is reverse transcribed into DNA by the enzyme reverse transcriptase, which is then integrated into the host genome by the enzyme integrase.

Retroviruses can remain dormant in the host genome for extended periods of time, and may be reactivated under certain conditions to produce new viral particles. This ability to integrate into the host genome has also made retroviruses useful tools in molecular biology, where they are used as vectors for gene therapy and other genetic manipulations.

Protein transport, in the context of cellular biology, refers to the process by which proteins are actively moved from one location to another within or between cells. This is a crucial mechanism for maintaining proper cell function and regulation.

Intracellular protein transport involves the movement of proteins within a single cell. Proteins can be transported across membranes (such as the nuclear envelope, endoplasmic reticulum, Golgi apparatus, or plasma membrane) via specialized transport systems like vesicles and transport channels.

Intercellular protein transport refers to the movement of proteins from one cell to another, often facilitated by exocytosis (release of proteins in vesicles) and endocytosis (uptake of extracellular substances via membrane-bound vesicles). This is essential for communication between cells, immune response, and other physiological processes.

It's important to note that any disruption in protein transport can lead to various diseases, including neurological disorders, cancer, and metabolic conditions.

A plasmid is a small, circular, double-stranded DNA molecule that is separate from the chromosomal DNA of a bacterium or other organism. Plasmids are typically not essential for the survival of the organism, but they can confer beneficial traits such as antibiotic resistance or the ability to degrade certain types of pollutants.

Plasmids are capable of replicating independently of the chromosomal DNA and can be transferred between bacteria through a process called conjugation. They often contain genes that provide resistance to antibiotics, heavy metals, and other environmental stressors. Plasmids have also been engineered for use in molecular biology as cloning vectors, allowing scientists to replicate and manipulate specific DNA sequences.

Plasmids are important tools in genetic engineering and biotechnology because they can be easily manipulated and transferred between organisms. They have been used to produce vaccines, diagnostic tests, and genetically modified organisms (GMOs) for various applications, including agriculture, medicine, and industry.

Adenoviridae is a family of viruses that includes many species that can cause various types of illnesses in humans and animals. These viruses are non-enveloped, meaning they do not have a lipid membrane, and have an icosahedral symmetry with a diameter of approximately 70-90 nanometers.

The genome of Adenoviridae is composed of double-stranded DNA, which contains linear chromosomes ranging from 26 to 45 kilobases in length. The family is divided into five genera: Mastadenovirus, Aviadenovirus, Atadenovirus, Siadenovirus, and Ichtadenovirus.

Human adenoviruses are classified under the genus Mastadenovirus and can cause a wide range of illnesses, including respiratory infections, conjunctivitis, gastroenteritis, and upper respiratory tract infections. Some serotypes have also been associated with more severe diseases such as hemorrhagic cystitis, hepatitis, and meningoencephalitis.

Adenoviruses are highly contagious and can be transmitted through respiratory droplets, fecal-oral route, or by contact with contaminated surfaces. They can also be spread through contaminated water sources. Infections caused by adenoviruses are usually self-limiting, but severe cases may require hospitalization and supportive care.

A LOD (Logarithm of Odds) score is not a medical term per se, but rather a statistical concept that is used in genetic research and linkage analysis to determine the likelihood of a gene or genetic marker being linked to a particular disease or trait. The LOD score compares the odds of observing the pattern of inheritance of a genetic marker in a family if the marker is linked to the disease, versus the odds if the marker is not linked. A LOD score of 3 or higher is generally considered evidence for linkage, while a score of -2 or lower is considered evidence against linkage.

Protein folding is the process by which a protein molecule naturally folds into its three-dimensional structure, following the synthesis of its amino acid chain. This complex process is determined by the sequence and properties of the amino acids, as well as various environmental factors such as temperature, pH, and the presence of molecular chaperones. The final folded conformation of a protein is crucial for its proper function, as it enables the formation of specific interactions between different parts of the molecule, which in turn define its biological activity. Protein misfolding can lead to various diseases, including neurodegenerative disorders such as Alzheimer's and Parkinson's disease.

A mutant protein is a protein that has undergone a genetic mutation, resulting in an altered amino acid sequence and potentially changed structure and function. These changes can occur due to various reasons such as errors during DNA replication, exposure to mutagenic substances, or inherited genetic disorders. The alterations in the protein's structure and function may have no significant effects, lead to benign phenotypic variations, or cause diseases, depending on the type and location of the mutation. Some well-known examples of diseases caused by mutant proteins include cystic fibrosis, sickle cell anemia, and certain types of cancer.

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

In the context of medical and biological sciences, a "binding site" refers to a specific location on a protein, molecule, or cell where another molecule can attach or bind. This binding interaction can lead to various functional changes in the original protein or molecule. The other molecule that binds to the binding site is often referred to as a ligand, which can be a small molecule, ion, or even another protein.

The binding between a ligand and its target binding site can be specific and selective, meaning that only certain ligands can bind to particular binding sites with high affinity. This specificity plays a crucial role in various biological processes, such as signal transduction, enzyme catalysis, or drug action.

In the case of drug development, understanding the location and properties of binding sites on target proteins is essential for designing drugs that can selectively bind to these sites and modulate protein function. This knowledge can help create more effective and safer therapeutic options for various diseases.

Epigenetics is the study of heritable changes in gene function that occur without a change in the underlying DNA sequence. These changes can be caused by various mechanisms such as DNA methylation, histone modification, and non-coding RNA molecules. Epigenetic changes can be influenced by various factors including age, environment, lifestyle, and disease state.

Genetic epigenesis specifically refers to the study of how genetic factors influence these epigenetic modifications. Genetic variations between individuals can lead to differences in epigenetic patterns, which in turn can contribute to phenotypic variation and susceptibility to diseases. For example, certain genetic variants may predispose an individual to develop cancer, and environmental factors such as smoking or exposure to chemicals can interact with these genetic variants to trigger epigenetic changes that promote tumor growth.

Overall, the field of genetic epigenesis aims to understand how genetic and environmental factors interact to regulate gene expression and contribute to disease susceptibility.

In the context of medicine and pharmacology, "kinetics" refers to the study of how a drug moves throughout the body, including its absorption, distribution, metabolism, and excretion (often abbreviated as ADME). This field is called "pharmacokinetics."

1. Absorption: This is the process of a drug moving from its site of administration into the bloodstream. Factors such as the route of administration (e.g., oral, intravenous, etc.), formulation, and individual physiological differences can affect absorption.

2. Distribution: Once a drug is in the bloodstream, it gets distributed throughout the body to various tissues and organs. This process is influenced by factors like blood flow, protein binding, and lipid solubility of the drug.

3. Metabolism: Drugs are often chemically modified in the body, typically in the liver, through processes known as metabolism. These changes can lead to the formation of active or inactive metabolites, which may then be further distributed, excreted, or undergo additional metabolic transformations.

4. Excretion: This is the process by which drugs and their metabolites are eliminated from the body, primarily through the kidneys (urine) and the liver (bile).

Understanding the kinetics of a drug is crucial for determining its optimal dosing regimen, potential interactions with other medications or foods, and any necessary adjustments for special populations like pediatric or geriatric patients, or those with impaired renal or hepatic function.

Green Fluorescent Protein (GFP) is not a medical term per se, but a scientific term used in the field of molecular biology. GFP is a protein that exhibits bright green fluorescence when exposed to light, particularly blue or ultraviolet light. It was originally discovered in the jellyfish Aequorea victoria.

In medical and biological research, scientists often use recombinant DNA technology to introduce the gene for GFP into other organisms, including bacteria, plants, and animals, including humans. This allows them to track the expression and localization of specific genes or proteins of interest in living cells, tissues, or even whole organisms.

The ability to visualize specific cellular structures or processes in real-time has proven invaluable for a wide range of research areas, from studying the development and function of organs and organ systems to understanding the mechanisms of diseases and the effects of therapeutic interventions.

A computer simulation is a process that involves creating a model of a real-world system or phenomenon on a computer and then using that model to run experiments and make predictions about how the system will behave under different conditions. In the medical field, computer simulations are used for a variety of purposes, including:

1. Training and education: Computer simulations can be used to create realistic virtual environments where medical students and professionals can practice their skills and learn new procedures without risk to actual patients. For example, surgeons may use simulation software to practice complex surgical techniques before performing them on real patients.
2. Research and development: Computer simulations can help medical researchers study the behavior of biological systems at a level of detail that would be difficult or impossible to achieve through experimental methods alone. By creating detailed models of cells, tissues, organs, or even entire organisms, researchers can use simulation software to explore how these systems function and how they respond to different stimuli.
3. Drug discovery and development: Computer simulations are an essential tool in modern drug discovery and development. By modeling the behavior of drugs at a molecular level, researchers can predict how they will interact with their targets in the body and identify potential side effects or toxicities. This information can help guide the design of new drugs and reduce the need for expensive and time-consuming clinical trials.
4. Personalized medicine: Computer simulations can be used to create personalized models of individual patients based on their unique genetic, physiological, and environmental characteristics. These models can then be used to predict how a patient will respond to different treatments and identify the most effective therapy for their specific condition.

Overall, computer simulations are a powerful tool in modern medicine, enabling researchers and clinicians to study complex systems and make predictions about how they will behave under a wide range of conditions. By providing insights into the behavior of biological systems at a level of detail that would be difficult or impossible to achieve through experimental methods alone, computer simulations are helping to advance our understanding of human health and disease.

Recombinant proteins are artificially created proteins produced through the use of recombinant DNA technology. This process involves combining DNA molecules from different sources to create a new set of genes that encode for a specific protein. The resulting recombinant protein can then be expressed, purified, and used for various applications in research, medicine, and industry.

Recombinant proteins are widely used in biomedical research to study protein function, structure, and interactions. They are also used in the development of diagnostic tests, vaccines, and therapeutic drugs. For example, recombinant insulin is a common treatment for diabetes, while recombinant human growth hormone is used to treat growth disorders.

The production of recombinant proteins typically involves the use of host cells, such as bacteria, yeast, or mammalian cells, which are engineered to express the desired protein. The host cells are transformed with a plasmid vector containing the gene of interest, along with regulatory elements that control its expression. Once the host cells are cultured and the protein is expressed, it can be purified using various chromatography techniques.

Overall, recombinant proteins have revolutionized many areas of biology and medicine, enabling researchers to study and manipulate proteins in ways that were previously impossible.

A User-Computer Interface (also known as Human-Computer Interaction) refers to the point at which a person (user) interacts with a computer system. This can include both hardware and software components, such as keyboards, mice, touchscreens, and graphical user interfaces (GUIs). The design of the user-computer interface is crucial in determining the usability and accessibility of a computer system for the user. A well-designed interface should be intuitive, efficient, and easy to use, minimizing the cognitive load on the user and allowing them to effectively accomplish their tasks.

DNA replication is the biological process by which DNA makes an identical copy of itself during cell division. It is a fundamental mechanism that allows genetic information to be passed down from one generation of cells to the next. During DNA replication, each strand of the double helix serves as a template for the synthesis of a new complementary strand. This results in the creation of two identical DNA molecules. The enzymes responsible for DNA replication include helicase, which unwinds the double helix, and polymerase, which adds nucleotides to the growing strands.

A telomere is a region of repetitive DNA sequences found at the end of chromosomes, which protects the genetic data from damage and degradation during cell division. Telomeres naturally shorten as cells divide, and when they become too short, the cell can no longer divide and becomes senescent or dies. This natural process is associated with aging and various age-related diseases. The length of telomeres can also be influenced by various genetic and environmental factors, including stress, diet, and lifestyle.

Cell differentiation is the process by which a less specialized cell, or stem cell, becomes a more specialized cell type with specific functions and structures. This process involves changes in gene expression, which are regulated by various intracellular signaling pathways and transcription factors. Differentiation results in the development of distinct cell types that make up tissues and organs in multicellular organisms. It is a crucial aspect of embryonic development, tissue repair, and maintenance of homeostasis in the body.

"Drug design" is the process of creating and developing a new medication or therapeutic agent to treat or prevent a specific disease or condition. It involves identifying potential targets within the body, such as proteins or enzymes that are involved in the disease process, and then designing small molecules or biologics that can interact with these targets to produce a desired effect.

The drug design process typically involves several stages, including:

1. Target identification: Researchers identify a specific molecular target that is involved in the disease process.
2. Lead identification: Using computational methods and high-throughput screening techniques, researchers identify small molecules or biologics that can interact with the target.
3. Lead optimization: Researchers modify the chemical structure of the lead compound to improve its ability to interact with the target, as well as its safety and pharmacokinetic properties.
4. Preclinical testing: The optimized lead compound is tested in vitro (in a test tube or petri dish) and in vivo (in animals) to evaluate its safety and efficacy.
5. Clinical trials: If the preclinical testing is successful, the drug moves on to clinical trials in humans to further evaluate its safety and efficacy.

The ultimate goal of drug design is to create a new medication that is safe, effective, and can be used to improve the lives of patients with a specific disease or condition.

Cricetinae is a subfamily of rodents that includes hamsters, gerbils, and relatives. These small mammals are characterized by having short limbs, compact bodies, and cheek pouches for storing food. They are native to various parts of the world, particularly in Europe, Asia, and Africa. Some species are popular pets due to their small size, easy care, and friendly nature. In a medical context, understanding the biology and behavior of Cricetinae species can be important for individuals who keep them as pets or for researchers studying their physiology.

Chlorides are simple inorganic ions consisting of a single chlorine atom bonded to a single charged hydrogen ion (H+). Chloride is the most abundant anion (negatively charged ion) in the extracellular fluid in the human body. The normal range for chloride concentration in the blood is typically between 96-106 milliequivalents per liter (mEq/L).

Chlorides play a crucial role in maintaining electrical neutrality, acid-base balance, and osmotic pressure in the body. They are also essential for various physiological processes such as nerve impulse transmission, maintenance of membrane potentials, and digestion (as hydrochloric acid in the stomach).

Chloride levels can be affected by several factors, including diet, hydration status, kidney function, and certain medical conditions. Increased or decreased chloride levels can indicate various disorders, such as dehydration, kidney disease, Addison's disease, or diabetes insipidus. Therefore, monitoring chloride levels is essential for assessing a person's overall health and diagnosing potential medical issues.

Protein conformation refers to the specific three-dimensional shape that a protein molecule assumes due to the spatial arrangement of its constituent amino acid residues and their associated chemical groups. This complex structure is determined by several factors, including covalent bonds (disulfide bridges), hydrogen bonds, van der Waals forces, and ionic bonds, which help stabilize the protein's unique conformation.

Protein conformations can be broadly classified into two categories: primary, secondary, tertiary, and quaternary structures. The primary structure represents the linear sequence of amino acids in a polypeptide chain. The secondary structure arises from local interactions between adjacent amino acid residues, leading to the formation of recurring motifs such as α-helices and β-sheets. Tertiary structure refers to the overall three-dimensional folding pattern of a single polypeptide chain, while quaternary structure describes the spatial arrangement of multiple folded polypeptide chains (subunits) that interact to form a functional protein complex.

Understanding protein conformation is crucial for elucidating protein function, as the specific three-dimensional shape of a protein directly influences its ability to interact with other molecules, such as ligands, nucleic acids, or other proteins. Any alterations in protein conformation due to genetic mutations, environmental factors, or chemical modifications can lead to loss of function, misfolding, aggregation, and disease states like neurodegenerative disorders and cancer.

The proteome is the entire set of proteins produced or present in an organism, system, organ, or cell at a certain time under specific conditions. It is a dynamic collection of protein species that changes over time, responding to various internal and external stimuli such as disease, stress, or environmental factors. The study of the proteome, known as proteomics, involves the identification and quantification of these protein components and their post-translational modifications, providing valuable insights into biological processes, functional pathways, and disease mechanisms.

Cell cycle proteins are a group of regulatory proteins that control the progression of the cell cycle, which is the series of events that take place in a eukaryotic cell leading to its division and duplication. These proteins can be classified into several categories based on their functions during different stages of the cell cycle.

The major groups of cell cycle proteins include:

1. Cyclin-dependent kinases (CDKs): CDKs are serine/threonine protein kinases that regulate key transitions in the cell cycle. They require binding to a regulatory subunit called cyclin to become active. Different CDK-cyclin complexes are activated at different stages of the cell cycle.
2. Cyclins: Cyclins are a family of regulatory proteins that bind and activate CDKs. Their levels fluctuate throughout the cell cycle, with specific cyclins expressed during particular phases. For example, cyclin D is important for the G1 to S phase transition, while cyclin B is required for the G2 to M phase transition.
3. CDK inhibitors (CKIs): CKIs are regulatory proteins that bind to and inhibit CDKs, thereby preventing their activation. CKIs can be divided into two main families: the INK4 family and the Cip/Kip family. INK4 family members specifically inhibit CDK4 and CDK6, while Cip/Kip family members inhibit a broader range of CDKs.
4. Anaphase-promoting complex/cyclosome (APC/C): APC/C is an E3 ubiquitin ligase that targets specific proteins for degradation by the 26S proteasome. During the cell cycle, APC/C regulates the metaphase to anaphase transition and the exit from mitosis by targeting securin and cyclin B for degradation.
5. Other regulatory proteins: Several other proteins play crucial roles in regulating the cell cycle, such as p53, a transcription factor that responds to DNA damage and arrests the cell cycle, and the polo-like kinases (PLKs), which are involved in various aspects of mitosis.

Overall, cell cycle proteins work together to ensure the proper progression of the cell cycle, maintain genomic stability, and prevent uncontrolled cell growth, which can lead to cancer.

Epithelial cells are types of cells that cover the outer surfaces of the body, line the inner surfaces of organs and glands, and form the lining of blood vessels and body cavities. They provide a protective barrier against the external environment, regulate the movement of materials between the internal and external environments, and are involved in the sense of touch, temperature, and pain. Epithelial cells can be squamous (flat and thin), cuboidal (square-shaped and of equal height), or columnar (tall and narrow) in shape and are classified based on their location and function.

DNA methylation is a process by which methyl groups (-CH3) are added to the cytosine ring of DNA molecules, often at the 5' position of cytospine phosphate-deoxyguanosine (CpG) dinucleotides. This modification is catalyzed by DNA methyltransferase enzymes and results in the formation of 5-methylcytosine.

DNA methylation plays a crucial role in the regulation of gene expression, genomic imprinting, X chromosome inactivation, and suppression of transposable elements. Abnormal DNA methylation patterns have been associated with various diseases, including cancer, where tumor suppressor genes are often silenced by promoter methylation.

In summary, DNA methylation is a fundamental epigenetic modification that influences gene expression and genome stability, and its dysregulation has important implications for human health and disease.

Sequence homology, amino acid, refers to the similarity in the order of amino acids in a protein or a portion of a protein between two or more species. This similarity can be used to infer evolutionary relationships and functional similarities between proteins. The higher the degree of sequence homology, the more likely it is that the proteins are related and have similar functions. Sequence homology can be determined through various methods such as pairwise alignment or multiple sequence alignment, which compare the sequences and calculate a score based on the number and type of matching amino acids.

A factual database in the medical context is a collection of organized and structured data that contains verified and accurate information related to medicine, healthcare, or health sciences. These databases serve as reliable resources for various stakeholders, including healthcare professionals, researchers, students, and patients, to access evidence-based information for making informed decisions and enhancing knowledge.

Examples of factual medical databases include:

1. PubMed: A comprehensive database of biomedical literature maintained by the US National Library of Medicine (NLM). It contains citations and abstracts from life sciences journals, books, and conference proceedings.
2. MEDLINE: A subset of PubMed, MEDLINE focuses on high-quality, peer-reviewed articles related to biomedicine and health. It is the primary component of the NLM's database and serves as a critical resource for healthcare professionals and researchers worldwide.
3. Cochrane Library: A collection of systematic reviews and meta-analyses focused on evidence-based medicine. The library aims to provide unbiased, high-quality information to support clinical decision-making and improve patient outcomes.
4. OVID: A platform that offers access to various medical and healthcare databases, including MEDLINE, Embase, and PsycINFO. It facilitates the search and retrieval of relevant literature for researchers, clinicians, and students.
5. ClinicalTrials.gov: A registry and results database of publicly and privately supported clinical studies conducted around the world. The platform aims to increase transparency and accessibility of clinical trial data for healthcare professionals, researchers, and patients.
6. UpToDate: An evidence-based, physician-authored clinical decision support resource that provides information on diagnosis, treatment, and prevention of medical conditions. It serves as a point-of-care tool for healthcare professionals to make informed decisions and improve patient care.
7. TRIP Database: A search engine designed to facilitate evidence-based medicine by providing quick access to high-quality resources, including systematic reviews, clinical guidelines, and practice recommendations.
8. National Guideline Clearinghouse (NGC): A database of evidence-based clinical practice guidelines and related documents developed through a rigorous review process. The NGC aims to provide clinicians, healthcare providers, and policymakers with reliable guidance for patient care.
9. DrugBank: A comprehensive, freely accessible online database containing detailed information about drugs, their mechanisms, interactions, and targets. It serves as a valuable resource for researchers, healthcare professionals, and students in the field of pharmacology and drug discovery.
10. Genetic Testing Registry (GTR): A database that provides centralized information about genetic tests, test developers, laboratories offering tests, and clinical validity and utility of genetic tests. It serves as a resource for healthcare professionals, researchers, and patients to make informed decisions regarding genetic testing.

RNA interference (RNAi) is a biological process in which RNA molecules inhibit the expression of specific genes. This process is mediated by small RNA molecules, including microRNAs (miRNAs) and small interfering RNAs (siRNAs), that bind to complementary sequences on messenger RNA (mRNA) molecules, leading to their degradation or translation inhibition.

RNAi plays a crucial role in regulating gene expression and defending against foreign genetic elements, such as viruses and transposons. It has also emerged as an important tool for studying gene function and developing therapeutic strategies for various diseases, including cancer and viral infections.

Skeletal muscle, also known as striated or voluntary muscle, is a type of muscle that is attached to bones by tendons or aponeuroses and functions to produce movements and support the posture of the body. It is composed of long, multinucleated fibers that are arranged in parallel bundles and are characterized by alternating light and dark bands, giving them a striped appearance under a microscope. Skeletal muscle is under voluntary control, meaning that it is consciously activated through signals from the nervous system. It is responsible for activities such as walking, running, jumping, and lifting objects.

Lymphocytes are a type of white blood cell that is an essential part of the immune system. They are responsible for recognizing and responding to potentially harmful substances such as viruses, bacteria, and other foreign invaders. There are two main types of lymphocytes: B-lymphocytes (B-cells) and T-lymphocytes (T-cells).

B-lymphocytes produce antibodies, which are proteins that help to neutralize or destroy foreign substances. When a B-cell encounters a foreign substance, it becomes activated and begins to divide and differentiate into plasma cells, which produce and secrete large amounts of antibodies. These antibodies bind to the foreign substance, marking it for destruction by other immune cells.

T-lymphocytes, on the other hand, are involved in cell-mediated immunity. They directly attack and destroy infected cells or cancerous cells. T-cells can also help to regulate the immune response by producing chemical signals that activate or inhibit other immune cells.

Lymphocytes are produced in the bone marrow and mature in either the bone marrow (B-cells) or the thymus gland (T-cells). They circulate throughout the body in the blood and lymphatic system, where they can be found in high concentrations in lymph nodes, the spleen, and other lymphoid organs.

Abnormalities in the number or function of lymphocytes can lead to a variety of immune-related disorders, including immunodeficiency diseases, autoimmune disorders, and cancer.

Extracellular matrix (ECM) proteins are a group of structural and functional molecules that provide support, organization, and regulation to the cells in tissues and organs. The ECM is composed of a complex network of proteins, glycoproteins, and carbohydrates that are secreted by the cells and deposited outside of them.

ECM proteins can be classified into several categories based on their structure and function, including:

1. Collagens: These are the most abundant ECM proteins and provide strength and stability to tissues. They form fibrils that can withstand high tensile forces.
2. Proteoglycans: These are complex molecules made up of a core protein and one or more glycosaminoglycan (GAG) chains. The GAG chains attract water, making proteoglycans important for maintaining tissue hydration and resilience.
3. Elastin: This is an elastic protein that allows tissues to stretch and recoil, such as in the lungs and blood vessels.
4. Fibronectins: These are large glycoproteins that bind to cells and ECM components, providing adhesion, migration, and signaling functions.
5. Laminins: These are large proteins found in basement membranes, which provide structural support for epithelial and endothelial cells.
6. Tenascins: These are large glycoproteins that modulate cell adhesion and migration, and regulate ECM assembly and remodeling.

Together, these ECM proteins create a microenvironment that influences cell behavior, differentiation, and function. Dysregulation of ECM proteins has been implicated in various diseases, including fibrosis, cancer, and degenerative disorders.

RNA-binding proteins (RBPs) are a class of proteins that selectively interact with RNA molecules to form ribonucleoprotein complexes. These proteins play crucial roles in the post-transcriptional regulation of gene expression, including pre-mRNA processing, mRNA stability, transport, localization, and translation. RBPs recognize specific RNA sequences or structures through their modular RNA-binding domains, which can be highly degenerate and allow for the recognition of a wide range of RNA targets. The interaction between RBPs and RNA is often dynamic and can be regulated by various post-translational modifications of the proteins or by environmental stimuli, allowing for fine-tuning of gene expression in response to changing cellular needs. Dysregulation of RBP function has been implicated in various human diseases, including neurological disorders and cancer.

A "reporter gene" is a type of gene that is linked to a gene of interest in order to make the expression or activity of that gene detectable. The reporter gene encodes for a protein that can be easily measured and serves as an indicator of the presence and activity of the gene of interest. Commonly used reporter genes include those that encode for fluorescent proteins, enzymes that catalyze colorimetric reactions, or proteins that bind to specific molecules.

In the context of genetics and genomics research, a reporter gene is often used in studies involving gene expression, regulation, and function. By introducing the reporter gene into an organism or cell, researchers can monitor the activity of the gene of interest in real-time or after various experimental treatments. The information obtained from these studies can help elucidate the role of specific genes in biological processes and diseases, providing valuable insights for basic research and therapeutic development.

Liver diseases refer to a wide range of conditions that affect the normal functioning of the liver. The liver is a vital organ responsible for various critical functions such as detoxification, protein synthesis, and production of biochemicals necessary for digestion.

Liver diseases can be categorized into acute and chronic forms. Acute liver disease comes on rapidly and can be caused by factors like viral infections (hepatitis A, B, C, D, E), drug-induced liver injury, or exposure to toxic substances. Chronic liver disease develops slowly over time, often due to long-term exposure to harmful agents or inherent disorders of the liver.

Common examples of liver diseases include hepatitis, cirrhosis (scarring of the liver tissue), fatty liver disease, alcoholic liver disease, autoimmune liver diseases, genetic/hereditary liver disorders (like Wilson's disease and hemochromatosis), and liver cancers. Symptoms may vary widely depending on the type and stage of the disease but could include jaundice, abdominal pain, fatigue, loss of appetite, nausea, and weight loss.

Early diagnosis and treatment are essential to prevent progression and potential complications associated with liver diseases.

Phylogeny is the evolutionary history and relationship among biological entities, such as species or genes, based on their shared characteristics. In other words, it refers to the branching pattern of evolution that shows how various organisms have descended from a common ancestor over time. Phylogenetic analysis involves constructing a tree-like diagram called a phylogenetic tree, which depicts the inferred evolutionary relationships among organisms or genes based on molecular sequence data or other types of characters. This information is crucial for understanding the diversity and distribution of life on Earth, as well as for studying the emergence and spread of diseases.

Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.

The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.

In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.

RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.

Aging is a complex, progressive and inevitable process of bodily changes over time, characterized by the accumulation of cellular damage and degenerative changes that eventually lead to increased vulnerability to disease and death. It involves various biological, genetic, environmental, and lifestyle factors that contribute to the decline in physical and mental functions. The medical field studies aging through the discipline of gerontology, which aims to understand the underlying mechanisms of aging and develop interventions to promote healthy aging and extend the human healthspan.

A conserved sequence in the context of molecular biology refers to a pattern of nucleotides (in DNA or RNA) or amino acids (in proteins) that has remained relatively unchanged over evolutionary time. These sequences are often functionally important and are highly conserved across different species, indicating strong selection pressure against changes in these regions.

In the case of protein-coding genes, the corresponding amino acid sequence is deduced from the DNA sequence through the genetic code. Conserved sequences in proteins may indicate structurally or functionally important regions, such as active sites or binding sites, that are critical for the protein's activity. Similarly, conserved non-coding sequences in DNA may represent regulatory elements that control gene expression.

Identifying conserved sequences can be useful for inferring evolutionary relationships between species and for predicting the function of unknown genes or proteins.

According to the National Institutes of Health (NIH), stem cells are "initial cells" or "precursor cells" that have the ability to differentiate into many different cell types in the body. They can also divide without limit to replenish other cells for as long as the person or animal is still alive.

There are two main types of stem cells: embryonic stem cells, which come from human embryos, and adult stem cells, which are found in various tissues throughout the body. Embryonic stem cells have the ability to differentiate into all cell types in the body, while adult stem cells have more limited differentiation potential.

Stem cells play an essential role in the development and repair of various tissues and organs in the body. They are currently being studied for their potential use in the treatment of a wide range of diseases and conditions, including cancer, diabetes, heart disease, and neurological disorders. However, more research is needed to fully understand the properties and capabilities of these cells before they can be used safely and effectively in clinical settings.

Repressor proteins are a type of regulatory protein in molecular biology that suppress the transcription of specific genes into messenger RNA (mRNA) by binding to DNA. They function as part of gene regulation processes, often working in conjunction with an operator region and a promoter region within the DNA molecule. Repressor proteins can be activated or deactivated by various signals, allowing for precise control over gene expression in response to changing cellular conditions.

There are two main types of repressor proteins:

1. DNA-binding repressors: These directly bind to specific DNA sequences (operator regions) near the target gene and prevent RNA polymerase from transcribing the gene into mRNA.
2. Allosteric repressors: These bind to effector molecules, which then cause a conformational change in the repressor protein, enabling it to bind to DNA and inhibit transcription.

Repressor proteins play crucial roles in various biological processes, such as development, metabolism, and stress response, by controlling gene expression patterns in cells.

Restriction mapping is a technique used in molecular biology to identify the location and arrangement of specific restriction endonuclease recognition sites within a DNA molecule. Restriction endonucleases are enzymes that cut double-stranded DNA at specific sequences, producing fragments of various lengths. By digesting the DNA with different combinations of these enzymes and analyzing the resulting fragment sizes through techniques such as agarose gel electrophoresis, researchers can generate a restriction map - a visual representation of the locations and distances between recognition sites on the DNA molecule. This information is crucial for various applications, including cloning, genome analysis, and genetic engineering.

Oligodeoxyribonucleotides (ODNs) are relatively short, synthetic single-stranded DNA molecules. They typically contain 15 to 30 nucleotides, but can range from 2 to several hundred nucleotides in length. ODNs are often used as tools in molecular biology research for various applications such as:

1. Nucleic acid detection and quantification (e.g., real-time PCR)
2. Gene regulation (antisense, RNA interference)
3. Gene editing (CRISPR-Cas systems)
4. Vaccine development
5. Diagnostic purposes

Due to their specificity and affinity towards complementary DNA or RNA sequences, ODNs can be designed to target a particular gene or sequence of interest. This makes them valuable tools in understanding gene function, regulation, and interaction with other molecules within the cell.

In medical terms, the skin is the largest organ of the human body. It consists of two main layers: the epidermis (outer layer) and dermis (inner layer), as well as accessory structures like hair follicles, sweat glands, and oil glands. The skin plays a crucial role in protecting us from external factors such as bacteria, viruses, and environmental hazards, while also regulating body temperature and enabling the sense of touch.

Biological evolution is the change in the genetic composition of populations of organisms over time, from one generation to the next. It is a process that results in descendants differing genetically from their ancestors. Biological evolution can be driven by several mechanisms, including natural selection, genetic drift, gene flow, and mutation. These processes can lead to changes in the frequency of alleles (variants of a gene) within populations, resulting in the development of new species and the extinction of others over long periods of time. Biological evolution provides a unifying explanation for the diversity of life on Earth and is supported by extensive evidence from many different fields of science, including genetics, paleontology, comparative anatomy, and biogeography.

Species specificity is a term used in the field of biology, including medicine, to refer to the characteristic of a biological entity (such as a virus, bacterium, or other microorganism) that allows it to interact exclusively or preferentially with a particular species. This means that the biological entity has a strong affinity for, or is only able to infect, a specific host species.

For example, HIV is specifically adapted to infect human cells and does not typically infect other animal species. Similarly, some bacterial toxins are species-specific and can only affect certain types of animals or humans. This concept is important in understanding the transmission dynamics and host range of various pathogens, as well as in developing targeted therapies and vaccines.

Organ specificity, in the context of immunology and toxicology, refers to the phenomenon where a substance (such as a drug or toxin) or an immune response primarily affects certain organs or tissues in the body. This can occur due to various reasons such as:

1. The presence of specific targets (like antigens in the case of an immune response or receptors in the case of drugs) that are more abundant in these organs.
2. The unique properties of certain cells or tissues that make them more susceptible to damage.
3. The way a substance is metabolized or cleared from the body, which can concentrate it in specific organs.

For example, in autoimmune diseases, organ specificity describes immune responses that are directed against antigens found only in certain organs, such as the thyroid gland in Hashimoto's disease. Similarly, some toxins or drugs may have a particular affinity for liver cells, leading to liver damage or specific drug interactions.

Tissue distribution, in the context of pharmacology and toxicology, refers to the way that a drug or xenobiotic (a chemical substance found within an organism that is not naturally produced by or expected to be present within that organism) is distributed throughout the body's tissues after administration. It describes how much of the drug or xenobiotic can be found in various tissues and organs, and is influenced by factors such as blood flow, lipid solubility, protein binding, and the permeability of cell membranes. Understanding tissue distribution is important for predicting the potential effects of a drug or toxin on different parts of the body, and for designing drugs with improved safety and efficacy profiles.

Adenosine triphosphatases (ATPases) are a group of enzymes that catalyze the conversion of adenosine triphosphate (ATP) into adenosine diphosphate (ADP) and inorganic phosphate. This reaction releases energy, which is used to drive various cellular processes such as muscle contraction, transport of ions across membranes, and synthesis of proteins and nucleic acids.

ATPases are classified into several types based on their structure, function, and mechanism of action. Some examples include:

1. P-type ATPases: These ATPases form a phosphorylated intermediate during the reaction cycle and are involved in the transport of ions across membranes, such as the sodium-potassium pump and calcium pumps.
2. F-type ATPases: These ATPases are found in mitochondria, chloroplasts, and bacteria, and are responsible for generating a proton gradient across the membrane, which is used to synthesize ATP.
3. V-type ATPases: These ATPases are found in vacuolar membranes and endomembranes, and are involved in acidification of intracellular compartments.
4. A-type ATPases: These ATPases are found in the plasma membrane and are involved in various functions such as cell signaling and ion transport.

Overall, ATPases play a crucial role in maintaining the energy balance of cells and regulating various physiological processes.

Retinoid X receptors (RXRs) are a subfamily of nuclear receptor proteins that function as transcription factors, playing crucial roles in the regulation of gene expression. They are activated by binding to retinoids, which are derivatives of vitamin A. RXRs can form heterodimers with other nuclear receptors, such as peroxisome proliferator-activated receptors (PPARs), liver X receptors (LXRs), farnesoid X receptors (FXRs), and thyroid hormone receptors (THRs). Upon activation by their respective ligands, these heterodimers bind to specific DNA sequences called response elements in the promoter regions of target genes, leading to modulation of transcription. RXRs are involved in various biological processes, including cell differentiation, development, metabolism, and homeostasis. Dysregulation of RXR-mediated signaling pathways has been implicated in several diseases, such as cancer, diabetes, and inflammatory disorders.

"Cone-rod dystrophy X-linked 1". Genetic and Rare Diseases (GARD). National Institutes of Health, U.S. Department of Health & ... X-linked cone-rod dystrophy, type 1 is a rare progressive genetic disorder of the vision which is characterized by progressive ... It is one of the three types of X-linked cone-rod dystrophy. This condition is linked to mutations (c.2383G > T, p.E795X) in ... "Cone-Rod Dystrophies, X-Linked". Hereditary Ocular Diseases. University of Arizona. Retrieved 2022-07-18. Demirci FY, Rigatti ...
"Snyder-Robinson syndrome". Genetic and Rare Diseases Information Center. Retrieved 20 February 2023. "X-linked intellectual ... SRS is a recessive X-linked condition. There are no known female cases, as both copies of the X chromosome would need to be ... Polyamine Metabolism in Disease and Polyamine-Targeted Therapies. 6 (4): 112. doi:10.3390/medsci6040112. ISSN 2076-3271. PMC ... The syndrome has also been referred to as Snyder-Robinson X-linked mental retardation syndrome (MRXSSR) and spermine synthase ...
". "X-linked hypophosphatemia , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih. ... X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of ... Online Mendelian Inheritance in Man (OMIM): 193100 "Hypophosphatemic rickets". Genetic and Rare Diseases Information Center. ... "The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey". Journal of the Endocrine Society. 3 ...
1] Science news article "U.K. Initiative Aims to Sequence 35,000 COVID-19 Patient Genomes; Link Genetic Makeup with Disease ... He started the GenOMICC (Genetics of Mortality in Critical Care) study in 2016, to study genetic predisposition to a wide range ... leading to a new international consensus definition of the disease. He has worked with WHO on influenza, MERS, Ebola and COVID- ...
Genetic and Rare Diseases Information. June 26, 2016. Retrieved November 15, 2021. Huart, C.; Meusel, T.; Gerber, J.; Duprez, T ... ISBN 9780878936953.{{cite book}}: CS1 maint: location missing publisher (link) "Kallmann syndrome". Genetics Home Reference. US ... Anosmia either total or partial is a symptom of Kallmann syndrome a genetic disorder that results in disruption of the ...
Jenkin, Henry J. (2010). "Hand and foot abnormalities associated with genetic diseases". Hand (New York, N.Y.). Springer Link. ... and diaphysis Short tubular bones Narrowed joint spaces Genetic Testing - A genetic sample may be taken in order to closely ... People with a family history are at a higher risk of having the disease than people with no family history. A random mutation ... Chen, Harold (2012). Chen, Harold (ed.). Atlas of Genetic Diagnosis and Counseling. New York: Springer US. pp. 1259-1263. doi: ...
"How blood cell genetic variations impact on common diseases". Retrieved 2017-06-23. "Integrative functional genomics identifies ... Webarchive template wayback links, CS1 errors: missing periodical, Epigenetics, Genome projects). ... The papers included descriptions of molecular biology and computational methods as well as new research on normal and disease ... as well as a limited number of model organisms relevant to specific human diseases. The initial focus is on cellular states ...
"The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases". J. Allergy Clin. Immunol. 122 (6): 1043-51, ... v t e (All articles with dead external links, Articles with dead external links from October 2022, Articles with permanently ... doi:10.1016/S0021-9258(18)37889-X. PMID 3136170.[permanent dead link] "Entrez Gene: IFNGR2". Al-Muhsen S, Casanova JL (December ... Defects in IFNGR2 are a cause of autosomal recessive mendelian susceptibility to mycobacterial disease (MSMD), also known as ...
"Rare diseases unit, genetic lab coming". The Times of India. Chennai. 1 March 2011. Archived from the original on 5 January ... "First skywalk to link Chennai Central with GH". The Hindu. Chennai. 23 June 2012. Retrieved 23 June 2012. Wikimedia Commons has ... state health department announced setting up of a genetic lab at the hospital to help in the early diagnosis of such diseases. ... It will be 1 km long, linking the hospital with nine points, including Chennai Central Railway Station, Evening Bazaar, ...
This genetic disease has been linked to the foundation Quarter Horse sire King P-234. "Testing for Genetic Diseases" Equus 353 ... The human form of the disease is known as glycogen storage disease type IV. Glycogen is a molecular polymer of glucose used to ... Commons category link from Wikidata, Horse diseases, American Quarter Horses). ... Because the disease is autosomal recessive, affected foals must be homozygous for the lethal GBED allele, meaning both parents ...
Hammer, Gary, D.; McPhee, Stephen J. (2010). "Pathophysiology of Selected Genetic Diseases". Pathophysiology of Disease: An ... The epicanthic fold found in many African people has been tentatively linked to protection for the eye from the high levels of ... Though its appearance in peoples of Southeast Asia can be linked to possible descent from cold-adapted ancestors, its ... ISBN 978-0-07-162167-0.{{cite book}}: CS1 maint: multiple names: authors list (link) Pham, V. (2010). COMMON OTOLARYNGOLOGICAL ...
"Immunodysregulation, polyendocrinopathy and enteropathy X-linked , Genetic and Rare Diseases Information Center (GARD) - an ... Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is a rare autoimmune disease. It is one of ... Diseases of immune dysregulation, Syndromes affecting immunity, Rare genetic syndromes). ... "Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence ...
"Uhl anomaly , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved 28 ... "Summary". v t e (All articles with dead external links, Articles with dead external links from July 2023, Articles with ... Rare diseases, All stub articles, Circulatory disease stubs). ... A congenital heart disease, it is very rare: fewer than 100 ... permanently dead external links, Articles with short description, Short description is different from Wikidata, All articles ...
On May 1, 1991, a novel X-linked genetic disorder was discovered through a Brazilian family, when severe intellectual ... "Stocco dos Santos syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov ... Stocco dos Santos syndrome is an extremely rare multi-systemic genetic disorder which is present from birth. It is ... This condition is thought to be caused by mutations in chromosome Xp11.22, and thought to be X-linked recessive. ...
"Immunodysregulation, polyendocrinopathy and enteropathy X-linked , Genetic and Rare Diseases Information Center (GARD) - an ... Each "type" of this condition has a different genetic cause. IPEX syndrome is inherited in males by an X-linked recessive ... Endocrine diseases, Autoimmune diseases, Rare syndromes, Diseases of immune dysregulation). ... cite journal}}: Cite journal requires ,journal= (help) "Autoimmune polyglandular syndrome type 2 , Genetic and Rare Diseases ...
KSFD is also believed to be X-linked, which helps prove that the disease is caused by a mutation found in the SAT 1 gene which ... "Neu Laxova Syndrome". GARD Genetic and Rare diseases Information Center. Retrieved 19 November 2018. Gimelli G, Giglio S, ... KDSF mostly affects men, which makes sense for it to be an X-linked disease, caused by a mutation of the SAT1 gene. Elevated ... October 2017). "Ferroptosis: A Regulated Cell Death Nexus Linking Metabolism, Redox Biology, and Disease". Cell. 171 (2): 273- ...
"Microduplication Xp11.22-p11.23 syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". ... X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males. Several X-linked syndromes ... X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in ... In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 gene mutations are the cause of ...
"X-linked intellectual disability, Najm type , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". ... X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked ... is a rare X-linked dominant genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia ... The CASK gene is located on the X chromosome and are therefore inherited in an X-linked manner. Nearly all known pathogenic ...
Inheritance is thought to be X-linked recessive. "Catel Manzke syndrome , Genetic and Rare Diseases Information Center (GARD ... Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic ... Genetic disorders with OMIM but no gene, Skeletal disorders, Syndromes affecting the jaw, Syndromes with cleft lip and/or ...
PMID 22084176.{{cite journal}}: CS1 maint: multiple names: authors list (link) "Osteopetrosis , Genetic and Rare Diseases ... sickle cell disease, hypervitaminosis D, and hypoparathyroidism. It was the first genetic disease treated with hematopoietic ... Genetic disorders by system, Rare diseases, Diseases named for discoverer). ... "List of FDA Orphan Drugs , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". Archived from the original ...
"Allan-Herndon-Dudley syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih. ... A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.[citation needed] ... "Allan-Herndon-Dudley syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih. ... This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that ...
Yale Journal of Biology and Medicine (1997). Treating Genetic Diseases: Lessons from Three Children. Journal of Pediatric ... Rosenberg, Leon E. (June 15, 1999). "The physician-scientist: An essential - and fragile - link in the medical research chain ... Rosenberg, Leon E. (June 1990). "Treating Genetic Diseases: Lessons from Three Children". Pediatric Research. 27 (6): S10-S16. ... Research (1990). The Physician-Scientist: An Essential-and Fragile-Link in the Medical Research Chain. Journal of Clinical ...
Parkinson's disease or Parkinson's disease dementia. This suggests some shared genetic pathology may underlie all four diseases ... The risk of developing DLB has not been linked to any specific lifestyle factors. Risk factors for rapid conversion of RBD to a ... There is overlap in the genetic risk factors for DLB, Alzheimer's disease (AD), Parkinson's disease, and Parkinson's disease ... Even the term Lewy body disease may not describe the true nature of this group of diseases; a unique genetic architecture may ...
Progeroid syndromes are genetic diseases that are linked to premature aging. Progeroid syndromes are characterized by having ... Werner syndrome, also known as "adult progeria", is another single-gene genetic disease. it is caused by a mutation in the wrn ... Progeria is a single-gene genetic disease that cause acceleration of many or most symptoms of ageing during childhood. It ... Mutations is genetic information that are expressed among organisms via gene expression, which is the translation of genetic ...
"Genetic and Rare Diseases Information Center (GARD) - an NCATS Program , Providing information about rare or genetic diseases ... PMID 20301594.{{cite journal}}: CS1 maint: multiple names: authors list (link) Initial Posting: April 18, 2004; Last Update: ... December 2004). "Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)". Neurology. 63 (11): ... Characteristics of Parkinson's Disease are also similar to PFBC. The disease usually manifests itself in the third to fifth ...
"New Gene Therapy trial set to help people with genetic eye diseases". Exchange Magazine. Retrieved May 15, 2020.[dead link] ... "Gene therapy may stop genetic eye disease". Radio Canada International. October 13, 2013. Retrieved May 15, 2020. - " ... S2CID 31064749.{{cite journal}}: CS1 maint: multiple names: authors list (link) For 1992, see Fulton, Dorcas S.; Urtasun, Raul ... Alberta Crown Prosecution Service Canadian Law List web page (All articles with dead external links, Articles with dead ...
Abnormal ribosome biogenesis is linked to several human genetic diseases.[citation needed] Ribosomopathy has been linked to ... However, clinically these diseases are distinct, and do not show a consistent set of features. With the exception of rare GATA1 ... The X-linked subtype of dyskeratosis congenita (DKCX)[citation needed] Shwachman-Diamond syndrome (SDS) is caused by bi-allelic ... Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes ...
Menkes disease, a genetic condition of copper deficiency, was first described by John Menkes in 1962. It is a rare X-linked ... Copper deficiency and toxicity can be either of genetic or non-genetic origin. The study of copper's genetic diseases, which ... Several rare genetic diseases (Wilson disease, Menkes disease, idiopathic copper toxicosis, Indian childhood cirrhosis) are ... although therapies are available to manage symptoms of genetic copper excess disease). The study of genetic copper metabolism ...
"Hypomyelination and congenital cataract , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". 2021-04-12. ... Retrieved 2022-07-13.{{cite web}}: CS1 maint: bot: original URL status unknown (link) Roberts, Sean. "Hypomyelination and ...
"RNA splicing is a primary link between genetic variation and disease". Science. 352 (6285): 600-4. Bibcode:2016Sci...352..600L ... and many diseases including diabetes and Parkinson's disease. One major goal of genetic research today is to better understand ... Recently, with rapid increases in available genetic data, researchers have begun to characterize the genetic architecture of ... While many genetic factors involved in complex traits have been identified, determining their specific contributions to ...
"This App Will Soon Detect Your Genetic Diseases - Based Only on a Picture". MIC. Love, Dylan. "A Doctor Is Building A Powerful ... "Too Much Iron May Act Like Rust in the Brain, Is Linked to Alzheimer's Disease". Newsweek. "Sharon Moalem". LinkedIn. Shank, ... His research in neurogenetics led to the discovery of new genetic associations for familial Alzheimer's disease. He was ... Donavan, Samantha (July 25, 2017). "'Rust deposits' from iron in the brain linked to Alzheimer's disease, researchers say". ABC ...
Some of these have also been linked to genetic and acquired cardiac diseases. Mutations in SCN5A, which could result in a loss ... A vast number of cardiac diseases is associated with mutations in NaV1.5 (see paragraph genetics). SCN5A is the gene that ... Also, mutations may act as a disease modifier, especially in families where lack of direct causality is reflected by complex ... and/or a gain-of-function of the channel, are associated with a spectrum of cardiac diseases. Pathogenic mutations generally ...
These genetic codes contain all the information of life. To understand the genetic basis for a given disease, scientists ... NIST Develops Benchmark for Accurately Detecting Large Genetic Mutations Linked to Major Diseases. ... are found to be linked to a disease.. Over the last eight years, the NIST-led Genome in a Bottle consortium (GIAB), which ... schizophrenia and cardiovascular disease have been linked to structural variants. For example, if a clinical laboratory is ...
Genetic link discovered in tropical foot disease May / June 2012 , Volume 11, Issue 3 * Full May / June 2012 Global Health ... Home , Global Health Matters May/Jun 2012 , Genetic link discovered in tropical foot disease Print ... NIH scientists have discovered a genetic link to podoconiosis, a disease that causes swelling and disfigurement in some people ... we hope to build capacity in genomics throughout Africa so that scientists can discover genetic links for other diseases." ...
A patient wonders if genetic hair loss can be linked to other diseases in men and women. Click to read more. ... linking male pattern baldness to heart disease. Do you think there are other links like this for androgenetic alopecia? - J.L ... So far, the genetic studies for androgenetic alopecia (AGA) have not revealed identification of a particular gene other than ... Bernstein Answers Questions On HairDX Genetic Test To Predict Hair Loss. *Do Genes Cause Male Pattern Baldness And, If So, ...
"I just got my results back from 23andMe and I was wondering how they link the genetic markers to the diseases, the ones where I ... How does a company like 23andMe link genetic markers to diseases?. March 21, 2017 ... One of the strongest SNP-disease links that scientists have found is for Alzheimers disease. This SNP is in a gene called APOE ... The way to link SNPs to diseases or other traits is called a genome-wide association study or GWAS. This kind of study does ...
A Breakthrough Global Study of Depression Finds 44 Genetic Variants Linked to the Disease. By Shaunacy Ferro. , Apr 27, 2018. ... Many of the genetic variants identified by this study are linked to targets of current antidepressant medications, like ... Further research will need to confirm that these genetic variants are indeed linked to depression. There are likely even more ... The researchers hope to continue their work to understand the links between environmental stressors, genetic variations, and ...
Tsukuba, Japan-Non-alcoholic fatty liver disease (NAFLD) is the accumulation of fat in the liver unrelated to alcohol abuse or ... "As the point mutation in the tyrosinase gene is the only genetic difference between B6 albino and B6 black mice," explains ... other liver diseases. It is often associated with obesity and diabetes and is considered a manifestation of metabolic syndrome ... Assistant Professor Hamada, "our work will facilitate the identification of genetic susceptibility factors for the development ...
New genetic links found to rare eye disease, opening the door to better diagnostics and potential treatments. The gene ... "We have come such a long way in identifying links to the disease, and every step provides new insights that can be leveraged in ... In the new study, Rando Allikmets, PhD, of Columbia University, used an alternative approach to find genetic drivers of disease ... Implications for other diseases. PHGDH is a key enzyme that enables the body to make serine, and these studies provided the ...
US - The origin of three costly cattle diseases is genetically linked, according to findings from US Department of Agriculture ... Researchers Uncover Genetic Link To Cattle Diseases US - The origin of three costly cattle diseases is genetically linked, ... This QTL is associated with the three diseases. Chromosome 20 is located near genetic markers related to other diseases and may ... Identifying genetic markers responsible for disease would provide an opportunity to produce cattle with increased disease ...
... which is associated with numerous genetic and environmental factors. The high prevalence of psoriasis worldwide (2-3% of the ... The link between psoriasis and other diseases based on epidemiological and genetic analyses. Zygmunt Adamski ... "The link between psoriasis and other diseases based on epidemiological and genetic analyses". Advances in Dermatology and ... "The link between psoriasis and other diseases based on epidemiological and genetic analyses." Advances in Dermatology and ...
The age of onset of Alzheimers disease is likely linked to genetic factors ... "Understanding the genetic contributors to Alzheimers disease is imperative for developing new approaches to diagnose and treat ... Alzheimers disease and other dementias are progressive neurodegenerative diseases that slowly rob affected individuals of ... previously implicated as a genetic risk factor for late-onset Alzheimers disease, and two other top candidate variants also ...
... showed a genetic overlap between schizophrenia and CVD risk factors, notably BMI and smoking. According to the findings, ... Genetic Links: The study, published in The American Journal of Psychiatry, ... Research finds genetic links between schizophrenia, heart disease risk factors. The study, published in The American Journal of ... This means that half of the genetic variants influencing schizophrenia were associated with increased cardiovascular disease ...
Cortexyme Announces Presentation of Data Revealing Link Between Bacterial Pathogen and Genetic Risk for Alzheimer?s Disease. ... Cortexyme Announces Presentation of Data Revealing Link Between Bacterial Pathogen and Genetic Risk for Alzheimer?s Disease ... HomeNewsCortexyme Announces Presentation of Data Revealing Link Between Bacterial Pathogen and Genetic Risk for Alzheimer?s ... and linking the ?gingipain hypothesis? for Alzheimer?s disease (AD) to the significance of the APOE gene as a major risk factor ...
X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. Explore ... Genetic Testing Information. *Genetic Testing Registry: X-linked agammaglobulinemia Genetic and Rare Diseases Information ... MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our ... X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. It is ...
In contrast, at sites less affected by whirling disease, T. tubifex of lineages V and VI that are more resistant to M. ... At the locations where whirling disease has had the greatest impact on resident rainbow trout, T. tubifex, representing ... the potential for more severe effects of whirling disease... ... from various river drainages in central Colorado by genetic ... Links. *More information: Publisher Index Page (via DOI). *Download citation as: RIS , Dublin Core ...
Links. Thalassaemia International Federation European Genetics Foundatiom Centers for Disease Control and Prevention (CDC), ... of total births annually occur with a defect of genetic or partially genetic origin. With a high prevalence of genetic ... Prevention and control of noncommunicable diseases: report of the Secretary-General. A prioritized research agenda for ... Resolution WHA63.17 on birth defects, including sickle-cell disease and thalassemia. Executive Board Resolution on Thalassaemia ...
Please use this url to cite or link to this publication: https://lup.lub.lu.se/record/44e9bf7c-6d1a-4bc6-a44c-ea768e2f12fb ... Genetic evidence implicating natriuretic peptide receptor-3 in cardiovascular disease risk : a Mendelian randomization study. * ... Blood pressure, C-type natriuretic peptide, Cardiovascular disease, Genetic epidemiology, Mendelian randomization, NPR2, NPR3. ... Genetic evidence implicating natriuretic peptide receptor-3 in cardiovascular disease risk : a Mendelian randomization study ...
Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a nationwide ... Links. *Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland, published in the New England Journal of ... Thousands of people diagnosed with rare genetic diseases in major research study. ​​​​​​​Around 5,500 people with severe ... Thousands of people diagnosed with rare genetic diseases in major research study ...
3. Rare and genetic diseases - areas of special interest. ** We are sourcing and linking articles/online information on ... Are you prepared to be involved in the development and provision of education in your rare and/or genetic disease area of ... Health Professionals and Researchers with specialised knowledge and experience in rare and genetic diseases (self-nominated) ... Do you belong to an organisation that has a multidisciplinary clinic or service for a rare and/or genetic disease? If yes, ...
Links with this icon indicate that you are leaving the CDC website. *The Centers for Disease Control and Prevention (CDC) ... Genetic Changes of Reemerged Influenza A(H7N9) Viruses, China. Emerging Infectious Diseases. 2014;20(9):1582-1583. doi:10.3201/ ... Skip directly to site content Skip directly to page options Skip directly to A-Z link Skip directly to A-Z link Skip directly ... Cui L, Liu D, Shi W, Pan J, Qi X, Li X, Dynamic reassortments and genetic heterogeneity of the human-infecting influenza A ( ...
... and colleagues reported a large Japanese kindred with an autosomal-dominant form of PD that was linked to a novel genetic risk ... A link between Parkinson disease (PD) and mutations in the leucine-rich repeat kinase-2 gene LRRK2 was first discovered in the ... Association of LRRK2 with Parkinson Disease. A link between Parkinson disease (PD) and mutations in the leucine-rich repeat ... Genetic risk modifiers. In addition to the above-mentioned disease-causing mutations characterized by segregation with disease ...
Alzheimers APOE4-Linked Pathology May Be Reduced by APOE-R136S Mutation John Sterling - ... Brain Insulin Resistance and Microglial Dysfunction Link Obesity with Neurodegenerative Disorders Sophia Ktori - ...
Edexcel GCSE Science - Biology higher Genetics GCSE Biology - Sex-linked genetic diseases ... What diagram helps when predicting the outcome of genetic diseases based on sex chromosomes? ... Join my mailing list and get a link to immediately download the FREE revision guides and get 10% off. ... Where are the two recessive alleles inherited from when a sufferer inherits a genetic disorder? ...
... people with schizophrenia have a genetic susceptibility to smoking as well as a lower genetic risk of obesity. ... Research finds genetic links between schizophrenia, heart disease risk factors ANI. 01 Oct 2023, 15:55 GMT+10 ... This means that half of the genetic variants influencing schizophrenia were associated with increased cardiovascular disease ... people with schizophrenia have a genetic susceptibility to smoking as well as a lower genetic risk of obesity. ...
NeuroVive reports promising progress in its clinical project for genetic mitochondrial diseases, KL1333 ... NeuroVive reports promising progress in its clinical project for genetic mitochondrial diseases, KL1333. ... for genetic mitochondrial diseases. The R&D portfolio consists of several late stage research programs in areas ranging from ... genetic mitochondrial disorders to cancer and metabolic diseases such as NASH. The companys strategy is to advance drugs for ...
In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family ... In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family ... title = "In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek ... In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family ...
To identify genetic variants underlying such differences and associated disease phenotypes, multinational consortia such as ... to identify novel genetic targets influencing brain structure variation that are linked to increased risk for neurological ... We first use a novel cross-species, comparative analysis using mouse and human genetic data to identify a candidate gene, MGST3 ... We find that MGST3 is associated with hippocampus size and is linked to a group of neurodegenerative disorders, such as ...
Variants Linked to Increased Risk of Coronary Heart Disease Genetic Variants Linked to Increased Risk of Coronary Heart Disease ... Coronary heart disease (CHD) is a leading cause of death worldwide. It occurs when the blood vessels that supply the heart with ... Genetic Variants Linked to Increased Risk of Coronary Heart Disease. Coronary heart disease (CHD) is a leading cause of death ... Some genetic variants are associated with an increased risk of CHD.. Genetic variants linked to CHD. Several genetic variants ...
study authors noted, however, it would still be difficult to predict who is at greater risk of bone disease. Individuals with ... Variations in these regions could provide protection against, or increased risk of, diseases that weaken bones . study authors ... A large group of international researchers has identified 32 new genetic regions associated with fractures and osteoporosis. ... The research, which involved 17 studies that compared common genetic variants in more than 100,000 people, accurately ...
Links with this icon indicate that you are leaving the CDC website. *The Centers for Disease Control and Prevention (CDC) ... Investigation of Host Genetic Factors in Infectious Diseases: Acute Flaccid Myelitis (AFM). ... Duggal will discuss her research on host genetic susceptibility to infectious disease, focusing on Acute Flaccid Myelitis (AFM ... Linking to a non-federal website does not constitute an endorsement by CDC or any of its employees of the sponsors or the ...
... which could contribute to the pathogenesis of the disease. Uncovering the genetic basis of microbial abundance and its effect ... suggests that dysbiosis of the human gut microbiota is associated with neurodegenerative diseases like Alzheimers disease (AD ... on AD could suggest lifestyle changes that may reduce an individuals risk for the disease. Using the largest genome-wide ... Anyone you share the following link with will be able to read this content:. Get shareable link. Sorry, a shareable link is not ...
  • We identify 539 independent, single-nucleotide polymorphism (SNP)-protein associations, which include novel inter-chromosomal ( trans ) links related to autoimmune disorders, Alzheimer's disease, cardiovascular disease, cancer and many other disease end points. (nature.com)
  • WINSTON-SALEM, N.C. - Researchers at Wake Forest University School of Medicine reported a genetic link between diabetes, cardiovascular disease and metabolic syndrome (also called Syndrome X), at a recent meeting of the American Society of Human Genetics in Salt Lake City. (wakehealth.edu)
  • We reported evidence that type 2 diabetes, metabolic syndrome, and the tendency to have cardiovascular disease and resulting heart-related events are inherited together on specific parts of the human chromosomes," said Donald W. Bowden, Ph.D., professor of biochemistry and internal medicine and associate director of the Wake Forest University Center for Human Genomics. (wakehealth.edu)
  • Researchers analyzed blood samples and DNA to locate regions of the human chromosomes that are connected with diabetes, metabolic syndrome, and cardiovascular disease. (wakehealth.edu)
  • The results suggest that genes associated with the tendency for diabetes, cardiovascular disease and metabolic syndrome, are inherited as a single trait," said Bowden. (wakehealth.edu)
  • Indeed, 463 of the 1,180 participants in the diabetes study reported they already had been told they had cardiovascular disease when the study began. (wakehealth.edu)
  • About half of the people with diabetes seem to have everything: diabetes, metabolic syndrome and cardiovascular disease," said Bowden. (wakehealth.edu)
  • Cardiovascular disease," as used in the study, refers to atherosclerosis, the buildup of fatty deposits and calcified plaque in the coronary and carotid arteries. (wakehealth.edu)
  • Variants in the APOL1 gene are associated with increased risk of kidney disease but not cardiovascular disease in African Americans with high blood pressure. (nih.gov)
  • Previous studies have shown that African Americans with two copies of certain variants of the APOL1 gene are at increased risk of developing kidney disease from causes other than diabetes, but there have been conflicting data regarding the role of APOL1 in cardiovascular disease. (nih.gov)
  • The Systolic Blood Pressure Intervention Trial (SPRINT) is testing whether reducing systolic blood pressure to a lower goal than currently recommended will reduce cardiovascular disease risk in people with high blood pressure but not diabetes. (nih.gov)
  • Over 2,500 African American volunteers in the SPRINT study agreed to undergo genetic testing to allow researchers to examine their APOL1 status as it related to their kidney function and risk of developing cardiovascular disease. (nih.gov)
  • However, they were not more likely to have cardiovascular disease. (nih.gov)
  • The current investigation confirms that the presence of these variants is associated with mild kidney disease in this population but shows that they are not associated with cardiovascular disease. (nih.gov)
  • Although a key priority in treating high blood pressure is to reduce the risk of both kidney and cardiovascular disease, more research is needed to identify the role played by APOL1 variants in these two processes. (nih.gov)
  • Apolipoprotein L1 gene variants associate with prevalent kidney but not prevalent cardiovascular disease in the Systolic Blood Pressure Intervention Trial. (nih.gov)
  • Being part of the world's largest Whole Genome Sequencing project gives Janssen a rare opportunity to use a large volume of human genetic data to gain meaningful insights about the causes and consequences of diseases, such as cardiovascular disease and Alzheimer's. (jnj.com)
  • Researchers from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for UNC13A, providing a possible therapeutic target that could also have implications in treating amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other forms of dementia. (nih.gov)
  • To determine whether there were any common gene variants, the researchers analyzed data from two large genome-wide association studies of migraine and heart disease. (medscape.com)
  • A genetic variant that inhibits alcohol metabolism and can leave some people with a reddened complexion is linked to blood vessel damage and an increased risk of heart disease, researchers are reporting. (nih.gov)
  • In lab studies, the researchers found that the genetic variant can damage the cells that line the inside of blood vessels by causing oxidative stress, inflammation, and a decrease in production of blood-vessel-relaxing nitric oxide. (nih.gov)
  • On the other hand: The researchers also identified a common antidiabetic drug that may protect against damage to the endothelial cells in those with the genetic variant who consume alcohol. (nih.gov)
  • Researchers identified four genes associated with the disease, which is triggered by walking barefoot on red clay soil that contains microscopic mineral shards from volcanoes. (nih.gov)
  • Researchers supported by the NIH Common Fund have discovered that genetic differences linked to a wide variety of diseases, including many adult-onset diseases, influence how genes are turned on, or activated, during fetal development. (nih.gov)
  • In addition, researchers were able to pinpoint which cell types are affected by different diseases. (nih.gov)
  • The finding that a large number of disease-associated GWAS variants are located in regulatory DNA regions that are active during fetal development suggests that environmental exposures during this period could influence risk for a large number of diseases, the researchers say. (nih.gov)
  • In the current study, researchers were able to look across the genome and identify which genes were regulated by hundreds of GWAS variants, including variants associated with blood platelet counts, amyotrophic lateral sclerosis (ALS), Crohn's disease, breast and ovarian cancer, and schizophrenia. (nih.gov)
  • A rare metabolic disorder is helping researchers at the National Human Genome Research Institute (NHGRI) and the National Institute of Mental Health (NIMH) uncover new clues about the biology underlying Parkinson's disease. (nih.gov)
  • In this study, researchers sought to better understand the genetic contributions to late-onset Alzheimer's, beyond those related to APOE4 , the strongest known genetic risk factor for the disease. (nih.gov)
  • Researchers from the Indiana University School of Medicine, Indianapolis, and the David Geffen School of Medicine at the University of California, Los Angeles, analyzed associations between the top 20 Alzheimer's genetic risk variants, as well as other variants previously associated with amyloid deposition, and amyloid levels measured by brain imaging. (nih.gov)
  • Researchers noted that improved understanding of these genetic risk factors could help predict which people are most at risk of developing dementia due to Alzheimer's and identify gene-specific drug targets. (nih.gov)
  • A team of researchers report finding evidence that Parkinson disease may have an infectious or autoimmune origin. (genengnews.com)
  • The predictable age of onset and existence of rare outliers provides researchers a valuable opportunity to study genetic variation linked to the age of Alzheimer's onset. (sflorg.com)
  • BBC News reports that a genetic link between gum disease and heart attacks has been found by researchers in Germany. (mednews.com)
  • Researchers from CIC bioGUNE provide new insights into digestive disease research. (cicbiogune.es)
  • Using complex statistical genetic approaches (mendelian randomization), the researchers investigated these links and found that the causal relationship might not be as straightforward as previously thought. (cicbiogune.es)
  • Researchers from the Liver Disease lab at CIC bioGUNE in collaboration. (cicbiogune.es)
  • Best known for his work unraveling the genetic causes of ALS and frontotemporal dementia (FTD), he led an international consortium of researchers that uncovered a mutation on chromosome 9 that is the most common 'familial' cause of both ALS and FTD. (nih.gov)
  • A team of international researchers from the National Center for Biotechnology Information (NCBI) , Hanover Medical School, in Germany, University College London, and others, has discovered genetic mutations that cause a rare and severe form of inflammatory bowel disease (IBD) in young children. (nih.gov)
  • In the largest study of its kind, an international group of researchers analyzed oral health and genetic data collected from over 500,000 participants and identified 47 areas of the genome linked to dental caries (tooth decay). (nih.gov)
  • Researchers analyzed oral health and genetic data from more than half a million participants and identified 47 areas of the genome linked to dental caries. (nih.gov)
  • The researchers also found shared genetic links among dental caries and characteristics such as smoking, education, personality traits, and metabolic measures. (nih.gov)
  • The researchers have assayed genetic variants of genes for: cytochrome P450 enzymes (2D6, 1A1, 2E1), monoamine oxidases (MAO) A and B, dopamine D2 receptor, superoxide dismutases (SOD1, SOD2), and the ND1 subunit of mitochondrial Complex I. Elevated risks associated with the G allele of the MAO-B intron 13 persist, as does the interaction with cigarette smoking. (nih.gov)
  • Researchers used a state-of-the-art technique called 'Whole Exome Sequencing' inside Dr. Vinh's laboratory to evaluate the patient's genes and perform sophisticated analysis of his genes compared to that of his family members, to identify the abnormal gene that was responsible for his disease. (news-medical.net)
  • The largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases was led by researchers from Queen Mary, University of London. (medindia.net)
  • Researchers found that study participants with two risk variants of the APOL1 gene were more likely to have mild kidney disease, defined as diminished filtering capacity and/or protein in their urine, than people with a single risk variant or none. (nih.gov)
  • A group of researchers led by the Universities of Nottingham and Leicester has discovered genetic differences that put some people at higher risk than others of developing chronic lung disease. (nottingham.ac.uk)
  • The researchers divided people into 10 different genetic risk groups, depending on the number of DNA differences shown to affect lung health. (nottingham.ac.uk)
  • A project that analyzed the genomes of rural Ugandans uncovered a raft of genetic variants and other findings with implications for human health, researchers report today (October 31) in Cell . (the-scientist.com)
  • In addition, the presence of the Rare Diseases Clinical Research Network (RDCRN), an NIH-funded research network of 23 active consortia or research groups that includes patients, researchers, and clinicians who are focused on the diagnosis & treatment of disorders is anticipated to positively impact the industry. (yahoo.com)
  • Identifying genetic variants may help researchers find the most effective ways to treat or prevent diseases such as Alzheimer's or frontotemporal degeneration in an individual. (washington.edu)
  • Researchers have not found a specific gene that directly causes the late-onset form of the disease. (washington.edu)
  • Genetics researchers have studied eFAD families to discover the three known genes that cause familial Alzheimer's disease: amyloid precursor protein (APP) on chromosome 21, presenilin-1 (PS1) on chromosome 14, and presenilin-2 (PS2) on chromosome 1. (washington.edu)
  • Researchers at Johns Hopkins have determined that in people age 55 to 75, a moderate program of physical exercise can significantly offset the potentially deadly mix of risk factors for heart disease and diabetes known as the metabolic syndrome. (hopkinsmedicine.org)
  • More specifically, the researchers found that exercise improved overall fitness, but the 23 percent fewer cases were more strongly linked to reductions in total and abdominal body fat and increases in muscle leanness, rather than improved fitness. (hopkinsmedicine.org)
  • But now, in the Dec. 17 issue of Science, Johns Hopkins researchers report finding not just a new participant, but a brand new conversation that has implications for treating disease and understanding biology. (hopkinsmedicine.org)
  • Researchers have successfully used focused beams of ultrasound to open the blood-brain barrier in patients with Alzheimer's disease, the first step in a study to see whether the technology can facilitate ablation of beta-amyloid plaques associated with the illness. (medpagetoday.com)
  • Furthermore, the researchers discovered that participants who possessed a common genetic variant of the ALDH2 gene were more susceptible to the ALDH-blocking effects of the pesticides, and were two to six times more likely to develop Parkinson's, compared with pesticide-exposed individuals who did not have the genetic variant. (medicalnewstoday.com)
  • New NIA-supported research ties several genetic risk variants for late-onset Alzheimer's disease to levels of amyloid at different disease stages. (nih.gov)
  • The results, published online Jan. 16, 2018, in JAMA Neurology , provide insight into the genetic influences on Alzheimer's-related brain changes, namely, buildup of amyloid, a protein that turns toxic and accumulates in the brains of people with Alzheimer's disease. (nih.gov)
  • There is growing evidence that there is a strong genetic component to Alzheimer's disease. (nih.gov)
  • The study included 977 participants (average age, 74 years) from the NIA-supported Alzheimer's Disease Neuroimaging Initiative (ADNI): 322 who were cognitively normal, 496 who were in the mild cognitive impairment stage, and 159 who were in the dementia stage. (nih.gov)
  • Results suggest genetic variants might affect Alzheimer's disease processes differently across disease stages. (nih.gov)
  • Alzheimer's disease and other dementias are progressive neurodegenerative diseases that slowly rob affected individuals of their memory, personality, and, eventually, their life. (sflorg.com)
  • Several decades ago, a neurologist named Francisco Lopera began studying the family because of their high incidence of very early-onset Alzheimer's disease. (sflorg.com)
  • Having the PSEN1 E280A mutation, as it is called, ensures with certainty that an individual will eventually develop a type of Alzheimer's disease called autosomal dominant Alzheimer's disease. (sflorg.com)
  • The dementia field is learning a lot about the cause and progression of Alzheimer's disease from this family. (sflorg.com)
  • HudsonAlpha Institute for Biotechnology Faculty Investigators Nick Cochran, PhD, and his lab were part of a recent study that dove deeper into the individuals' genomes and identified new potential gene variants linked to Alzheimer's disease. (sflorg.com)
  • Globally, Alzheimer's disease and other dementias affect about 55 million people. (sflorg.com)
  • This information could help scientists create better diagnostic tools to identify individuals with Alzheimer's disease before symptoms are present, affording them the chance to try early interventions. (sflorg.com)
  • Understanding the genetic contributors to Alzheimer's disease is imperative for developing new approaches to diagnose and treat the disease. (sflorg.com)
  • The gene candidates were part of biological processes and pathways that could be responsible for Alzheimer's disease pathology. (sflorg.com)
  • One promising hit was a new variant near the gene CLU, previously implicated as a genetic risk factor for late-onset Alzheimer's disease, and two other top candidate variants also might affect CLU-related biology. (sflorg.com)
  • Amyloid-beta is another protein that wreaks havoc in Alzheimer's disease brain, and the research team identified variants in genes associated with amyloid processing. (sflorg.com)
  • Epilepsy linked to increased risk of alzheimer's disease. (theepilepsynetwork.com)
  • Most cases of Alzheimer's disease-type dementia result from a mix of genetic, environmental and lifestyle factors. (washington.edu)
  • About 20 gene variants are known to confer low levels of increased risk for late-onset Alzheimer's disease, while others endow resilience. (washington.edu)
  • Some cases of Alzheimer's disease, and other neurodegenerative diseases such as frontotemporal dementia, are caused by a genetic mutation, or permanent change in one or more specific genes. (washington.edu)
  • Familial Alzheimer's disease usually onsets before age 65. (washington.edu)
  • Read on to learn about the genetic differences between early- and late-onset Alzheimer's disease, and frontotemporal degeneration (FTD). (washington.edu)
  • If Alzheimer's disease occurs in a person with this allele, it usually develops later in life than it would in someone with the APOE ε4 gene. (washington.edu)
  • APOE ε4 increases risk for late-onset Alzheimer's disease and is also associated with an earlier age of disease onset. (washington.edu)
  • Only 14 percent of people in the general population have APOE4, but 37% of people with late-onset Alzheimer's disease carry this version of the gene. (washington.edu)
  • Early-onset Alzheimer's disease, a relative rare condition, occurs between a person's 30s to mid-60s. (washington.edu)
  • About 3% of Alzheimer's disease cases are caused by an inherited change in a gene, resulting in a type known as early-onset familial Alzheimer's disease, or eFAD. (washington.edu)
  • Findings uncover a potential cause of neurodegeneration in the early stages of Alzheimer's disease. (neurosciencenews.com)
  • The quest to find a cure for Alzheimer's disease (AD) has almost entirely met with failure at the clinical trial stage. (jax.org)
  • Natural genetic variation determines microglia heterogeneity in wild-derived mouse models of Alzheimer's disease. (jax.org)
  • The JAX Center for Alzheimer's and Dementia Research focusses on the origins, progression, and treatments of Alzheimer's disease and related dementias using the mouse as a model organism. (jax.org)
  • Kristen Onos is a key player in developing drug testing pipelines to determine outcomes of potential Alzheimer's disease treatments and preventatives. (jax.org)
  • This is the first such use in humans of focused ultrasound to treat Alzheimer's disease, Lipsman said in an interview. (medpagetoday.com)
  • One is whether it makes sense to go after amyloid when there are questions about the link between amyloid and Alzheimer's disease. (medpagetoday.com)
  • The so-called amyloid hypothesis in Alzheimer's has suffered a series blows in recent clinical trials of anti-amyloid drugs -- none of which have made any impact on cognition in patients with definitely Alzheimer's disease -- but opinion is divided over whether or not it should be abandoned. (medpagetoday.com)
  • On the other hand, genetic studies have linked mutations in amyloid to Alzheimer's disease symptoms. (medpagetoday.com)
  • Medical News Today recently reported on a study suggesting that exposure to a byproduct of the pesticide DDT may increase the risk of Alzheimer's disease . (medicalnewstoday.com)
  • They added that studies of podoconiosis patients in other parts of the world might reveal additional genes involved in disease susceptibility. (nih.gov)
  • Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as Mycobacterium bovis Bacille Calmette Guérin (BCG) vaccines and nontuberculous, environmental mycobacteria (EM). (nih.gov)
  • discuss the potential clinical or public health impact of genetic testing multiple disease susceptibility genes. (cdc.gov)
  • Evidence for genetic susceptibility to type 2 diabetes comes from studies of population admixture, familial aggregation, mono- and dizygotic twins, and genetic association and linkage. (cdc.gov)
  • This HR demonstrates the value of genetic testing for susceptibility to T2D. (cdc.gov)
  • H-2 linked genetic control of disease susceptibility, murine lymphocyt" by M B. Oldstone, G F. Mitchell et al. (jax.org)
  • H-2 linked genetic control of disease susceptibility, murine lymphocytic choriomeningitis (lcm) virus infection. (jax.org)
  • Germline mutations in two genes, NEMO and CYBB, have long been known to cause other human diseases-incontinentia pigmenti (IP) and anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (NEMO/IKKG), and X-linked chronic granulomatous disease (CGD) (CYBB)-but specific mutations in either of these two genes have recently been shown to cause XR-MSMD. (nih.gov)
  • Genetic Testing: How Important Is It For You To Get Your Genome Tested For Hereditary Diseases? (medicaldaily.com)
  • a public-private partnership aimed at advancing the understanding of neurodegenerative diseases and fostering the development of treatments for amyotrophic lateral sclerosis (ALS) and other rare neurodegenerative diseases. (nih.gov)
  • The discovery, published in 2011 , revolutionized the scientific understanding of neurodegenerative diseases and the relationships between them. (nih.gov)
  • In 2011, an IRP-led study identified a genetic mutation responsible for many cases of ALS and frontotemporal dementia. (nih.gov)
  • In fact, this mutation, which disrupts the function of the C90RF72 gene, is responsible for 40 percent of all familial cases of ALS and FTD in European and North American populations, meaning cases in which a family member also has the disease. (nih.gov)
  • Sporadic' ALS is the most common form, affecting about 90 to 95 percent of all patients, and occurs when someone has the bad luck of being born with a random, disease-causing mutation. (nih.gov)
  • A child whose biological mother or father carries a genetic mutation for eFAD has a 50/50 chance of inheriting that mutation. (washington.edu)
  • NEW YORK (GenomeWeb) - Genetic testing for inherited retinal diseases is often not covered routinely by health insurance, yet a molecular diagnosis is required for enrollment in a number of clinical trials for new gene- or mutation-specific treatments. (genomeweb.com)
  • The results do not demonstrate that shared common genetic risk factors drive comorbidity between the 2 disorders. (medscape.com)
  • Certain variants of the genes are associated with increased risk of or protection against infectious disease, while other variants can induce autoimmune disorders. (genengnews.com)
  • International partnership for the understanding of rare diseases and cognitive disorders through. (cicbiogune.es)
  • With a high prevalence of genetic disorders such as haemoglobinopathies (thalassemias and sickle cell), countries in the Eastern Mediterranean Region share a large part of this burden accounting for as much as 26% of the annual total conceptions with β-thalassemia worldwide. (who.int)
  • However, although hundreds of genetic variants have been associated with complex disorders, the underlying molecular pathways often remain elusive. (nature.com)
  • We find that up to 60% of the naturally occurring variance in the blood plasma levels of essential proteins can be explained by two or more independent variants of a single gene located on another chromosome, and identify strong genetic associations with intermediate traits in pathways involved in complex disorders. (nature.com)
  • Throughout this Human Genetics course, you will have encountered many different genetic disorders that are caused by a wide variety of genetic alterations. (hstalks.com)
  • These disorders have in common that the associated genetic alterations result, in most cases, in altered expression or function of the protein product of the relevant gene, which then directly or indirectly leads to pathophysiological changes that result in disease. (hstalks.com)
  • Given that there are thousands of rare genetic disorders, it is of course not possible to provide a detailed comprehensive overview of the molecular mechanisms of all types of human genetic disease, but I hope that the selected examples will provide some insights into this topic. (hstalks.com)
  • Given that this is a large complex topic, I propose to give individual examples of genetic disorders to illustrate more general points, and also refer you to other relevant lectures in the series. (hstalks.com)
  • Looking at loss-of-function variants and their role in human disease, in fact the majority of rare genetic disorders described to date result from loss-of-function pathogenic variants, that may partially or completely inactivate the gene product. (hstalks.com)
  • ALS is a devastating neurodegenerative disease that results from the death of nerve cells in the brain and spinal cord. (nih.gov)
  • Patients with recurrent and severe infections may benefit from consultation with an infectious disease specialist. (medscape.com)
  • Suppose an infectious disease occurs in fifty per cent of a given population and breeders introduce a gene that offers five per cent protection against the disease. (wur.nl)
  • Dr. John Chia, who is an infectious disease specialist whose son developed ME after a bout with an enterovirus, sells a proprietary anti-viral formula of Chinese herbs called Equilabrant. (healingwell.com)
  • This probably combines with a genetic predisposition or an immune system assault that throw the immune response off. (healingwell.com)
  • and resolution WHA63.17 on birth defects, including sickle-cell disease and thalassemia, adopted by the Sixty-third World Health Assembly in May 2010. (who.int)
  • UK has given the green light to the world's inaugural gene therapy for sickle-cell disease and thalassemia. (medindia.net)
  • We now need to understand why migraineurs who are born with a protective or neutral genetic risk for CAD [coronary artery disease] end up with an increased risk of coronary events," she adds. (medscape.com)
  • This cumulative damage is associated with an increased risk of coronary artery disease, they said. (nih.gov)
  • The scientists looked at clinical, genetic, and environmental factors that might contribute to the development and progression of the disease and its complications. (genengnews.com)
  • Basic and clinical studies on the pathophysiology and treatment of inborn errors of metabolism and rare genetic metabolic diseases. (nih.gov)
  • The Genetic Metabolic Disease program supports basic and clinical research that addresses the pathophysiology and treatment of inborn errors of metabolism and rare genetic metabolic diseases, such as lipodystrophy, maturity onset diabetes of the young (MODY), primary hyperoxaluria, systemic amyloidosis, and porphyria. (nih.gov)
  • Genome-wide association studies (GWAS) with intermediate phenotypes, like changes in metabolite and protein levels, provide functional evidence to map disease associations and translate them into clinical applications. (nature.com)
  • The funds are used for multiple projects ranging from basic studies targeted at understanding the causes of diabetes at the molecular level through clinical trials in which people with diabetes participate in studies aimed at reducing heart disease and other complications of diabetes by exercise programs or new drug therapies. (wakehealth.edu)
  • At the clinical level, previous evaluations did not look at all his symptoms in their entirety as one disease but as individual and unrelated problems. (news-medical.net)
  • Once we related our patient to the Bubble Boy's disease, which we know is genetic, we discovered this new gene,' says Dr. Vinh, who collaborated with Dr. André Veillette, the Director of the IRCM Molecular Oncology Research Unit at the Montreal Clinical Research Institute (IRCM) in the study. (news-medical.net)
  • The molecular genetic tests specialty segment held the largest revenue share in 2021 due to the high adoption in research & clinical settings. (yahoo.com)
  • The Foundation Fighting Blindness has been supporting research to prevent and treat retinal degenerative diseases (RDDs) for decades, including early translational studies and phase I/II clinical trials. (genomeweb.com)
  • NightstaRx is currently recruiting participants for a Phase I/II clinical trial for the therapy, which uses an adeno-associated viral vector encoding the Retinitis Pigmentosa GTPase Regulator, and among the inclusion criteria is a genetically confirmed diagnosis of X-linked RP. (genomeweb.com)
  • Patients create their own de-identified profiles and their doctors can upload clinical data, including genetic testing results. (genomeweb.com)
  • Podoconiosis, also known as non-filarial elephantiasis, was recently designated a neglected tropical disease by the World Health Organization (WHO). (nih.gov)
  • The Centers for Disease Control, the World Health Organization, the National Institutes of Health and African physicians involved in the study all have concluded that nevirapine used as a single dose to prevent maternal to child transmission of HIV is safe, appropriate and effective in this health care setting. (hopkinsmedicine.org)
  • The process of getting a rare disease diagnosis can take several years. (nih.gov)
  • Patients with evidence of renal disease should be referred to a nephrologist for diagnosis and management. (medscape.com)
  • Genetic testing and prenatal diagnosis may reduce the incidence of this condition. (medscape.com)
  • A team from the Research Institute of the McGill University Health Centre (RI-MUHC) led by Dr. Donald Vinh, the RI's so-called 'Dr. House' because of his research into rare diseases, has discovered a new human disease and the gene responsible for it, paving the way for the proper diagnosis of patients globally and the development of new therapies. (news-medical.net)
  • Furthermore, the lack of awareness among patients and families about diagnosis and genetic testing has further impeded the industry's growth. (yahoo.com)
  • North America dominated the industry in 2021 due to the high incidence of rare diseases, a large number of registries, the presence of substantial numbers of R&D facilities in this area, and extensive investments in diagnosis. (yahoo.com)
  • A heart disease diagnosis can be scary. (womenheart.org)
  • Since the various hereditary PPK - like many other monogenic diseases - exhibit a very low prevalence, making of the correct diagnosis is challenging and often requires a molecular genetic analysis. (hud.ac.uk)
  • 2005) Genetic prediction of future type 2 diabetes external icon . (cdc.gov)
  • analyzed data from a prospective cohort study to investigate the value of genetic factors in predicting type 2 diabetes (T2D). (cdc.gov)
  • People with hemochromatosis may also have signs of diabetes and heart disease and may also develop liver cancer , cirrhosis , testicular atrophy (wasting away), and infertility. (webmd.com)
  • Patients with IPEX syndrome should be referred to an endocrinologist for management of diabetes and thyroid disease. (medscape.com)
  • People with diabetes are at greatly increased risk of developing diseases of the blood vessels and resulting heart events. (wakehealth.edu)
  • The findings are from the Diabetes Heart Study, a project to understand how genes and lifestyle influence the development of heart disease in diabetes families. (wakehealth.edu)
  • It triples the risk of atherosclerotic heart disease and increases the risk for type 2 diabetes nearly five-fold. (wakehealth.edu)
  • The exact cause of these diseases - autoimmune thyroid disease, coeliac disease, Crohn's disease, psoriasis, multiple sclerosis and type 1 diabetes- is unknown, but is believed to be a complex combination of genetic and environmental factors. (medindia.net)
  • Association was detected between HLA region and late-onset sporadic disease. (genengnews.com)
  • Results are published in Nature Genetics , and the paper is titled "Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. (genengnews.com)
  • Additionally, it was strong in sporadic and late-onset disease. (genengnews.com)
  • Most people with Alzheimer's have the late-onset form of the disease, in which symptoms become apparent in the mid-60s and later. (washington.edu)
  • The causes of late-onset Alzheimer's are not yet completely understood, but they likely include a combination of genetic, environmental, and lifestyle factors that affect a person's risk for developing the disease. (washington.edu)
  • Scientists at the National Institutes of Health have identified new genetic risk factors for two types of non-Alzheimer’s dementia. (nih.gov)
  • and CLU , DSG2 , and ZCWPWI , which were linked to the dementia stage. (nih.gov)
  • Professor Luo's work primarily focuses on establishing the processes through which HD develops and using that knowledge to find new ways of treating it and other diseases, including dementia. (reachmd.com)
  • The results of the largest study to date looking at genetic modifiers of the age of onset of dementia were recently published in Alzheimer's & Dementia: The Journal of the Alzheimer's Association . (sflorg.com)
  • The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
  • These findings may help to explain why some environmental exposures in utero or during early childhood are known to increase risk of diseases that produce symptoms years or even decades later. (nih.gov)
  • Findings showed that after APOE4 , the gene with the strongest association with amyloid deposits was ABCA7, especially in the asymptomatic and early symptomatic disease stages. (nih.gov)
  • Our results also pointed to several other genes that might play a role in developing Parkinson's disease, and these findings need to be confirmed, so we have a lot of work ahead of us," notes Cyrus Zabetian, M.D., associate professor of neurology at the University of Washington and VA Puget Sound Health Care System. (genengnews.com)
  • The findings suggest that processes contributing to dental health may directly affect overall health at the genetic level. (nih.gov)
  • Among the group's findings were that a genetic variant found in 22 percent of Africans that is protective against malaria affects the blood levels of a marker called glycated hemoglobin. (the-scientist.com)
  • The critical issue is that to date, geneticists did not include the difference between infectious diseases and non-transferable afflictions such as heart attack in their findings. (wur.nl)
  • Our associations overlap with 57 genetic risk loci for 42 unique disease end points. (nature.com)
  • A secondary form of hemochromatosis is not genetic and is caused by other diseases, such as thalassemia, a genetic blood disorder that causes anemia . (webmd.com)
  • NIH scientists have discovered a genetic link to podoconiosis, a disease that causes swelling and disfigurement in some people, after extended exposure to volcanic soil. (nih.gov)
  • Through our H3Africa initiative, we hope to build capacity in genomics throughout Africa so that scientists can discover genetic links for other diseases. (nih.gov)
  • Human Heredity and Health in Africa (H3Africa) aims to enhance the ability of African scientists to use cutting-edge research approaches to study the genes and environment behind common diseases and, ultimately, to improve health in African populations. (nih.gov)
  • Scientists have previously used genome-wide association studies (GWAS) to look across the DNA of many people and identify genetic differences, or variants, associated with different diseases. (nih.gov)
  • Scientists have discovered an additional potential cause of the genetic mutations that result in rare conditions such as Huntington's disease (HD). (reachmd.com)
  • After testing samples from about 300 Finnish ALS and FTD patients and 300 people with neither condition, the IRP scientists noticed a common genetic haplotype that exists in the Finnish population. (nih.gov)
  • The scientists analyzed oral health and genetic data collected from more than 500,000 participants. (nih.gov)
  • The scientists tested the vaccine pill on monkeys, and the drug produced the necessary antibodies against the disease without any visible side effects. (medicaldaily.com)
  • In this study, using high-throughput sequencing techniques,a global team of scientists sought to identify new variants, including rare and potentially high risk ones, in 25 previously identified risk genes in a sample of nearly 42,000 individuals (24,892 with autoimmune disease and 17,019 controls). (medindia.net)
  • The clues to preventing these and other conditions could be found in our DNA-and these scientists are at the forefront of promising new genetic data research to uncover them. (jnj.com)
  • Through a few key partnerships-including, most recently, the UK Biobank Whole Genome Sequencing project, the largest human genome sequencing project in the world-Janssen scientists are developing genomics to not only help spur new treatment options but also increase understanding and awareness around certain diseases. (jnj.com)
  • A team led by Johns Hopkins scientists has found the first clear evidence that the process behind the human immune system's remarkable ability to recognize and respond to a million different proteins might have originated from a family of genes whose only apparent function is to jump around in genetic material. (hopkinsmedicine.org)
  • Wageningen University & Research scientists have discovered a method to link complex mathematical epidemiology models to genetic models. (wur.nl)
  • Professor and co-author Mart de Jong says that the scientists focus too much on the individual when fighting infectious diseases and too little on the effect of interventions on the population as a whole. (wur.nl)
  • NEI-funded research at Scripps Research Institute and Lowy Medical Research Institute, both in La Jolla, California, has turned up more than a dozen gene variants linked to MacTel, a rare eye disease. (nih.gov)
  • This study confirms that genetic causes of disease may be different in Africans and provides opportunities to identify new genes associated with disease that would not be identified in European studies," coauthor Deepti Gurdasani of Queen Mary's University of London says in the statement. (the-scientist.com)
  • Sadly, it was also the month in 1939 when he was diagnosed with the neurological disease that bears his name - Lou Gehrig's disease, also known as amyotrophic lateral sclerosis (ALS) - and the month he died of that disease two years later. (nih.gov)
  • Dr Ducros suggests that other genetic factors could play a role, with one hypothesis that the mode of inheritance of migraine with aura involves rare variants, each of which exerts more important functional effects. (medscape.com)
  • Therefore, some rare genetic variants, which cannot be captured by the genome-wide association studies, could be implicated in both migraine with aura and heart disease. (medscape.com)
  • An electron microscopy image of human retinal cells, which were analyzed in a new study on a rare eye disease known as MacTel. (nih.gov)
  • Questions about rare diseases? (nih.gov)
  • Other rare complications of X-linked cardiac valvular dysplasia include inflammation of the inner lining of the heart (endocarditis), abnormal blood clots, or sudden death. (medlineplus.gov)
  • Primary hyperoxaluria, overproduction of oxalate, is a rare genetic condition associated with kidney stones that can lead to kidney failure and injury to other organs. (nih.gov)
  • NGN-401 is a first ever new gene therapy discovered to cure a rare genetic brain disorder called Rett Syndrome. (medindia.net)
  • X-linked cone-rod dystrophy, type 1 is a rare progressive genetic disorder of the vision which is characterized by progressive myopia, photophobia, abnormal color perception, lowered photopic electroretinigraphic response, and macular retinal pigment epithelium granularity. (wikipedia.org)
  • Genetic and Rare Diseases (GARD). (wikipedia.org)
  • The global rare disease genetic testing market size is expected to reach USD 2.52 billion by 2030, registering a CAGR of 13.94% over the forecast period, according to this report. (yahoo.com)
  • Effective regulatory plans to combat rare disease is one of the key drivers of the industry. (yahoo.com)
  • As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. (yahoo.com)
  • The U.S. celebrates Rare Disease Day and promotes developments in this area by raising awareness. (yahoo.com)
  • APOE ε2 is relatively rare and may provide some protection against the disease. (washington.edu)
  • RARe-SOURCEâ„¢ offers rare disease gene variant annotations and links to rare disease gene literature. (nih.gov)
  • Many rare diseases have limited information. (nih.gov)
  • Unfortunately, Dennis's parents didn't believe their son could have a rare disease . (drgreene.com)
  • Past studies have shown that this phenomenon, called alcohol flush reaction , is due to a genetic variant that prevents the body from properly metabolize acetaldehyde, a byproduct of alcohol. (nih.gov)
  • A genetic variant makes some people more likely to develop podoconiosis, a tropical disease that causes foot and leg disfigurement, according to a recent study. (nih.gov)
  • In the current study, 79 percent of GWAS variants in regulatory DNA were connected to genes that were not the closest ones to the variant, underscoring why previous efforts to link GWAS variants with target genes have been so difficult. (nih.gov)
  • However, the investigators note that individuals who had the genetic variant who were not exposed to pesticides did not demonstrate increased risk of Parkinson's disease. (medicalnewstoday.com)
  • Understanding how and when environmental exposures affect gene regulation may provide insights into ways to prevent disease by reducing exposures early in life, instead of treating the disease when symptoms occur in adulthood. (nih.gov)
  • The signs and symptoms of X-linked cardiac valvular dysplasia vary greatly among affected individuals. (medlineplus.gov)
  • In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. (nih.gov)
  • The goal of treatment is to remove excess iron from the body, as well as reduce any symptoms or complications that have resulted from the disease. (webmd.com)
  • Plus, certain symptoms of mental health conditions - such as insomnia, inactivity, or failure to take prescribed medications - can increase the risk of heart disease. (womenheart.org)
  • Like with heart disease, you want to understand the signs and symptoms of conditions like depression and seek support if you're experiencing them. (womenheart.org)
  • Symptoms of this disease may start to appear as a Teenager and as an Adult. (nih.gov)
  • The age symptoms may begin to appear differs between diseases. (nih.gov)
  • The symptoms from some diseases may begin at any age. (nih.gov)
  • The types of symptoms experienced, and their intensity, may vary among people with this disease. (nih.gov)
  • The prevalence of X-linked cardiac valvular dysplasia is unknown. (medlineplus.gov)
  • The prevalence of X-linked creatine deficiency is unknown. (nih.gov)
  • We have always assumed the prevalence of the disease would subsequently drop by five per cent', researcher Piter Bijma states. (wur.nl)
  • However, if each individual has the gene, studies show that the prevalence of the disease becomes forty per cent rather than the expected 45 per cent. (wur.nl)
  • But surprisingly, results showed no shared gene variants between migraine with aura and heart disease. (medscape.com)
  • And while migraine without aura was found to share some gene variants with heart disease, these genes were actually protective against heart disease. (medscape.com)
  • Now, new research suggests that exposure to pesticides may increase the risk of the disease and that individuals with specific gene variants may be more susceptible. (medicalnewstoday.com)
  • The link between migraine and heart disease cannot be explained by known shared gene variations, a new study shows. (medscape.com)
  • Migraine - particularly migraine with aura - has been associated with an increased risk for heart disease. (medscape.com)
  • The heart disease study involved 21,076 patients with heart disease and 63,014 controls who did not have heart disease. (medscape.com)
  • In an accompanying editorial , Anne Ducros, MD, from the University of Montpellier, France, notes that "patients with migraine without aura seem to have a lower load of genetic factors increasing the risk of heart disease. (medscape.com)
  • Cite this: Migraine, Heart Disease Link: No Genetic Explanation - Medscape - Jul 09, 2015. (medscape.com)
  • linking male pattern baldness to heart disease. (bernsteinmedical.com)
  • Periodontitis (gum disease) is known to be associated with heart disease but how exactly they are linked is unknown. (mednews.com)
  • To determine the relative frequency of mutations in three different genes (low-density lipoprotein receptor (LDLR), APOB, PCSK9) , and to examine their effect in development of coronary heart disease (CHD) in patients with clinically defined definite familial hypercholesterolaemia in UK. (bmj.com)
  • Elevated blood pressure is relatively common in the U.S. population and is a risk factor for heart disease, stroke, and kidney disease. (nih.gov)
  • Multiple studies have shown a direct link between heart disease and mental health conditions like depression. (womenheart.org)
  • The link goes both ways - emotional disturbances such as depression or high levels of stress can cause heart disease. (womenheart.org)
  • And on the contrary, heart disease can affect a patient's mental health. (womenheart.org)
  • In this article, we're exploring the links between mental health and heart disease in women. (womenheart.org)
  • This type of long-term stress puts you at risk of heart disease. (womenheart.org)
  • High levels of stress can cause you to live in constant fight or flight mode , increasing your odds of developing heart disease. (womenheart.org)
  • The key to preventing stress-related heart disease is controlling your stress. (womenheart.org)
  • But you can learn to manage the associated stress and live a full life with heart disease. (womenheart.org)
  • There are multiple links between depression and heart disease in women. (womenheart.org)
  • And that women who are depressed are more at risk of heart disease than women who are not depressed? (womenheart.org)
  • At WomenHeart, we often talk about taking control of your heart health, staying positive and thriving with heart disease. (womenheart.org)
  • 11 Department of Pediatric Cardiology and Congenital Heart Disease, German Heart Center Munich, Munich, Germany. (jci.org)
  • Among the most advanced candidates is voretigene neparvovec, a gene therapy developed by Spark Therapeutics for the treatment of inherited retinal disease, in particular Leber congenital amaurosis (LCA), that is caused by mutations in the RPE65 gene. (genomeweb.com)
  • These studies are intended to uncover links among genetic variations in identifying the causes for diseases. (campustechnology.com)
  • While more data are needed to understand the molecular mechanisms underlying the association between migraine and CAD, this study shows that common genetic variants are not major players in this association," she concludes. (medscape.com)
  • The Centre for Cooperative Research in Biosciences (CIC bioGUNE), member of the Basque Research & Technology Alliance (BRTA), located in the Bizkaia Technology Park, is a biomedical research organisation conducting cutting-edge research at the interface between structural, molecular and cell biology, with a particular focus on generating knowledge on the molecular bases of disease, for use in the development of new diagnostic methods and advanced therapies. (cicbiogune.es)
  • NCBI creates public databases in molecular biology, conducts research in computational biology, develops software tools for analyzing molecular and genomic data, and disseminates biomedical information, all for the better understanding of processes affecting human health and disease. (nih.gov)
  • 2] Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan. (nih.gov)
  • Because they can carry molecular cargo and lack viral genetic material, they are able to exploit the efficiency and tissue-targeting advantages of viral delivery without the drawbacks of using actual viruses, which can insert their genetic material into a cell's genome and potentially cause cancer and other diseases. (harvard.edu)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • In addition, genetic mapping had linked both conditions to the same stretch of DNA on chromosome 9, which was made up of about 7 million base pairs. (nih.gov)
  • However, proteomics-based genetic association studies have been limited by small protein panels or cohort sizes, and thus, have not systematically addressed associations across multiple chromosome locations. (nature.com)
  • New possibilities for research on digestive diseases have been set by complete decoding of the Y chromosome. (medindia.net)
  • T, p.E795X) in the RPGR gene, located in the Xp11.4 region of the X chromosome, and it is inherited in an X-linked dominant manner with full penetrance, because of this, it mostly affects males. (wikipedia.org)
  • Uganda is a melting pot of different cultures and languages, and we wanted to understand the genetic structure and history of populations within the country," says coauthor Pontiano Kaleebu, the director of the Uganda Virus Research Institute and of the MRC/UVRI & London School of Hygiene and Tropical Medicine Uganda Research Unit, in a press release . (the-scientist.com)
  • It becomes essential that we understand the genetic cause of disease, because it's no good giving a gene therapy to a person for a gene when it's not the gene they need corrected," Mansfield said. (genomeweb.com)
  • Smaller genetic variants (such as nonsense and frameshift mutations that result in a premature stop codon) can result in disease by producing proteins that lack key functional domains, or they may result in nonsense-mediated mRNA decay, so that no protein is produced from the mutated allele. (hstalks.com)
  • In this particular disease, mineral particles rather than pathogens might trigger the chain of responses. (nih.gov)
  • He said: "These results suggests that risk for these autoimmune diseases is not due to a few high-risk genetic variations but seems rather due to a random selection from many common genetic variants which each have a weak effect. (medindia.net)
  • If this is the case then it may never be possible to accurately predict an individual's genetic risk of these common autoimmune diseases. (medindia.net)
  • The disease is characterized by a weakened immune system and, because the body's ability to fight off infections is crippled, patients are susceptible to recurrent life-threatening infections such as pneumonias and debilitating infections, such as progressive warts. (news-medical.net)
  • We're looking to see if this causes the immune deficiency reported in adults with Down's syndrome,' says Dr. Vinh, whose study of genetic defects of the immune system has fueled his 'medical detective' reputation. (news-medical.net)
  • Our patient's disease is in the same family of conditions but because he was an adult, nobody thought to explore this possibility,' says Dr. Vinh, who explains the 'Bubble Boy' name was given to a young child in the Seventies who was forced to live in a sterile bubble from birth due to his severely weakened immune system. (news-medical.net)
  • The authors said their study provides a research model for other fibrosing diseases, such as filariasis and pneumoconiosis, and for complex gene-environment inflammatory diseases, which are often poorly understood. (nih.gov)
  • Research is pointing to an important role for epigenetic modifications in many diseases, but discovering how genetic variants and epigenetic modifications interact to influence disease risk has been difficult. (nih.gov)
  • We believe this is an important advance, but also that we should do everything that we can to help shine a light on every possible contributor to disease for these individuals that have taught the Alzheimer's research community so much through their generous involvement in research over many years," says Cochran. (sflorg.com)
  • A recent study performed by the Gastrointestinal Genetics laboratory , led by Dr. Mauro D'Amato , Ikerbasque research Professor at CIC bioGUNE - member of BRTA - and Professor of Medical Genetics at LUM University in Bari (Italy), sheds light on the causal relationship between genetically related conditions: hemorrhoidal disease (HEM), diverticular disease (DIV), and irritable bowel syndrome (IBS). (cicbiogune.es)
  • NIEHS research uses state-of-the-art science and technology to investigate the interplay between environmental exposures, human biology, genetics, and common diseases to help prevent disease and improve human health. (nih.gov)
  • This new research indicates that the genetic tendency to have these conditions is inherited together. (wakehealth.edu)
  • To assess the benefit of genetic testing data and to enable more patients to take advantage of it, the Foundation Fighting Blindness has been conducting a pilot research program, providing gene panel testing to 100 members of its My Retina Tracker patient registry free of charge. (genomeweb.com)
  • The skin cells of four adults with schizophrenia have provided an unprecedented "window" into how the disease began while they were still in the womb, according to a recent paper in Schizophrenia Research. (mountsinai.org)
  • Archivos de Bronconeumologia is a scientific journal that preferentially publishes prospective original research articles whose content is based upon results dealing with several aspects of respiratory diseases such as epidemiology, pathophysiology, clinics, surgery, and basic investigation. (archbronconeumol.org)
  • In a previous study published in PNAS last year, the research team, including Dr. Jeff M. Bronstein of the David Geffen School of Medicine at the University of California, Los Angeles (UCLA), first uncovered a link between Parkinson's disease and a pesticide called benomyl. (medicalnewstoday.com)
  • The results of their six-year study, published online in the July 30, 2012, issue of the journal Brain, may explain how people with alterations in the gene involved in Gaucher disease are more likely to develop Parkinson's - and provide a window to potential inner workings of Parkinson's itself. (nih.gov)
  • Special emphasis is on characterization of the genes, gene defects and regulatory alterations that are the underlying causes of these diseases. (nih.gov)
  • The aim of this lecture is to provide selected examples of the links between different types of genetic and epigenetic alterations, and the diversity of ways in which they can impact protein function and lead to human genetic disease. (hstalks.com)
  • A genome-wide association study was performed on 2,000 Parkinson disease patients and 1,986 healthy volunteers from clinics in Oregon, Washington, New York, and Georgia. (genengnews.com)
  • These results provide new insight into disease mechanisms, and suggest novel targets for therapeutics development and disease prevention strategies. (nih.gov)
  • He and others in the consortium will now mine for gene-environment interactions, with a goal of finding environmental triggers and protectors to develop personalized therapeutics for treatment and prevention of Parkinson disease. (genengnews.com)
  • We spoke to these scientific pioneers to see how their work harnessing the human genome has the potential to change how we approach disease prevention-and help shed light on why some people may develop certain diseases but others may not. (jnj.com)
  • The study opens opportunities in the prevention of infectious hoof disease and pulmonary infections, as well as in eradicating common cattle diseases such as salmonella, bovine TB and Hepatitis E. Something considered impossible until now. (wur.nl)
  • The neurodegenerative diseases, which also include most spinocerebellar ataxias (SCAs), are known to be caused by an expansion in the CAG (cytosine-adenine-guanine) repeats within a gene that in turn leads to an expanded polyglutamine (polyQ) tract in a protein. (reachmd.com)
  • Previously, it had been thought the damage in these genetic diseases was caused solely by increased protein aggregate toxicity. (reachmd.com)
  • In this inherited liver disease an important liver protein known as alpha-1 antitrypsin is either lacking or exists in lower than normal levels in the blood. (webmd.com)
  • We used linear additive genetic regression models, adjusted for relevant covariates, to analyse 509,946 common autosomal SNPs for genome-wide associations with 1,124 protein levels measured in 1,000 blood samples from the KORA study (see Methods). (nature.com)
  • The mechanisms by which genetic variants result in loss of protein function are many and variable, and include large-scale genomic deletions that can involve multiple genes, down to smaller single-exon deletions that may result in the protein reading frame being shifted and a truncated protein, or an in-frame loss of protein sequence. (hstalks.com)
  • They say these interventions could potentially reduce the occurrence of Parkinson's disease or slow its progression for individuals exposed to pesticides. (medicalnewstoday.com)
  • By doing so, patients could benefit from aggressive monitoring of potential complications and earlier implementation of tailored therapies,' explains Dr. Vinh, a researcher from the Infectious Diseases and Immunity in Global Health Program of the RI-MUHC and an associate professor in the Division of Infectious Diseases at McGill University. (news-medical.net)
  • X-linked creatine deficiency is an inherited disorder that primarily affects the brain. (nih.gov)
  • However, the foundation also funds work in age-related macular degeneration, a related disorder that affects more than 10 million people in the US and has a number of genetic risk factors. (genomeweb.com)
  • As of today, genetic testing can pinpoint the cause of disease in about 60 to 70 percent of cases, Mansfield said, though the success rate depends on the specific disorder. (genomeweb.com)