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.
Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.
A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA).
A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract.
Promotion and protection of the rights of patients, frequently through a legal process.
Laws concerned with manufacturing, dispensing, and marketing of drugs.
Infections with bacteria of the genus ACTINOMYCES.
A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR.
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
Process that is gone through in order for a drug to receive approval by a government regulatory agency. This includes any required pre-clinical or clinical testing, review, submission, and evaluation of the applications and test results, and post-marketing surveillance of the drug.
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
An operating division of the US Department of Health and Human Services. It is concerned with the overall planning, promoting, and administering of programs pertaining to health and medical research. Until 1995, it was an agency of the United States PUBLIC HEALTH SERVICE.
A group of disorders resulting from the abnormal proliferation of and tissue infiltration by LANGERHANS CELLS which can be detected by their characteristic Birbeck granules (X bodies), or by monoclonal antibody staining for their surface CD1 ANTIGENS. Langerhans-cell granulomatosis can involve a single organ, or can be a systemic disorder.
Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).
An American National Standards Institute-accredited organization working on specifications to support development and advancement of clinical and administrative standards for healthcare.
Fundamental claims of patients, as expressed in statutes, declarations, or generally accepted moral principles. (Bioethics Thesaurus) The term is used for discussions of patient rights as a group of many rights, as in a hospital's posting of a list of patient rights.
Structured vocabularies describing concepts from the fields of biology and relationships between concepts.
A slowly progressive condition of unknown etiology, characterized by deposition of fibrous tissue in the retroperitoneal space compressing the ureters, great vessels, bile duct, and other structures. When associated with abdominal aortic aneurysm, it may be called chronic periaortitis or inflammatory perianeurysmal fibrosis.
A neoplasm containing HISTIOCYTES. Important forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA.
The collective designation of three organizations with common membership: the European Economic Community (Common Market), the European Coal and Steel Community, and the European Atomic Energy Community (Euratom). It was known as the European Community until 1994. It is primarily an economic union with the principal objectives of free movement of goods, capital, and labor. Professional services, social, medical and paramedical, are subsumed under labor. The constituent countries are Austria, Belgium, Denmark, Finland, France, Germany, Greece, Ireland, Italy, Luxembourg, Netherlands, Portugal, Spain, Sweden, and the United Kingdom. (The World Almanac and Book of Facts 1997, p842)
That segment of commercial enterprise devoted to the design, development, and manufacture of chemical products for use in the diagnosis and treatment of disease, disability, or other dysfunction, or to improve function.
An agency of the PUBLIC HEALTH SERVICE concerned with the overall planning, promoting, and administering of programs pertaining to maintaining standards of quality of foods, drugs, therapeutic devices, etc.
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones.
The most benign and common form of Langerhans-cell histiocytosis which involves localized nodular lesions predominantly of the bones but also of the gastric mucosa, small intestine, lungs, or skin, with infiltration by EOSINOPHILS.
Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRATORY TRACT and GASTROINTESTINAL TRACT.
Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)
Health care professionals, technicians, and assistants staffing LABORATORIES in research or health care facilities.
Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.
Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females.
Organizations representing specialized fields which are accepted as authoritative; may be non-governmental, university or an independent research organization, e.g., National Academy of Sciences, Brookings Institution, etc.
A genus of gram-positive bacteria in the family Cellulomonadaceae.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
Research that involves the application of the natural sciences, especially biology and physiology, to medicine.
A characteristic symptom complex.

Granular cell tumor of the mediastinum. (1/535)

Mediastinal granular cell tumor is an exceptionally rare tumor; there are only a few previously reported cases. We report a 21-year-old man with a granular cell tumor in the right posterior mediastinum. Chest computed tomography scans and magnetic resonance imaging revealed a 15x20 mm well circumscribed, homogeneous mass, which was closely associated with the vertebral column. The T1-weighted magnetic resonance image showed low intensities, and moderate intensities were found on the T2-weighted magnetic resonance image. Gd-DTPA enhancement was remarkable on the tumor surface. The present case differed from ordinary neurogenic tumors in magnetic resonance imaging findings. Thoracoscopic resection of the tumor was performed. The tumor was associated with the sympathetic nerve. Histologic analysis revealed a benign granular cell tumor.  (+info)

Multicentric Castleman's disease manifesting in the lung: clinical, radiographic, and pathologic findings and successful treatment with corticosteroid and cyclophosphamide. (2/535)

Multicentric Castleman's disease (MCD) is an uncommon and often incurable lymphoproliferative disorder. There has been some recent evidence that rare cases of MCD manifest diffuse lung involvement, but the features in these cases are not well characterized. We report just such a biopsy-proven case of MCD with typical laboratory abnormalities including serum interleukin-6 elevation and characteristic high-resolution CT findings. Immunopathologically, the features of the lung tissue resembled those of lymphocytic interstitial pneumonia with predominant infiltration of B cells and plasma cells. In addition, the abnormal appearance of B cells in bronchoalveolar lavage fluid was of diagnostic value. Although MCD is often refractory to treatment including corticosteroid, chemo- and immuno-therapy, we show successful treatment with corticosteroid and cyclophosphamide and 4 years of complete remission.  (+info)

Very severe aplastic anemia appearing after thymectomy. (3/535)

Aplastic anemia is a rare complication of thymoma and is extremely infrequent after thymectomy. We present a case of a 60-year-old woman with very severe aplastic anemia appearing sixteen months after thymectomy for a thymoma. She underwent thymectomy for a thymoma in April 2000. Preoperative examination revealed no hematologic abnormality. About sixteen months after the operation, she was readmitted because of pancytopenia with cough and fever. Bone marrow aspiration revealed a very severe hypoplasia in all the three cell lines with over 80% fatty tissue, and chest CT revealed no recurrence of thymoma. Her aplastic anemia had responded to cyclosporine A and granulocyte-colony stimulating factor (G-CSF).  (+info)

Extension of adrenocortical carcinoma into the right atrium--echocardiographic diagnosis: a case report. (4/535)

BACKGROUND: Adrenocortical carcinoma is a rare, highly malignant tumor. Cardiac involvement of the tumor is very rare. Echocardiography facilitates the evaluation of the cardiac involvement of the tumor. CASE PRESENTATION: We describe a patient with an adrenal tumor. Transthoracic echo showed its extension into the right atrium. Accordingly, a combined abdominal and cardiac operation was performed, monitored by transesophageal echocardiography. CONCLUSION: This case highlights the importance of echocardiography in revealing the cardiac involvement by this tumor and in planning the operative procedure.  (+info)

Itraconazole to prevent fungal infections in chronic granulomatous disease. (5/535)

BACKGROUND: Chronic granulomatous disease is a rare disorder in which the phagocytes fail to produce hydrogen peroxide. The patients are predisposed to bacterial and fungal infections. Prophylactic antibiotics and interferon gamma have reduced bacterial infections, but there is also the danger of life-threatening fungal infections. We assessed the efficacy of itraconazole as prophylaxis against serious fungal infections in chronic granulomatous disease. METHODS: Thirty-nine patients at least 5 years old (6 female and 33 male; mean age, 14.9 years) were enrolled in a randomized, double-blind, placebo-controlled study. After the initially assigned treatment, each patient alternated between itraconazole and placebo annually. Patients 13 years of age or older and all patients weighing at least 50 kg received a single dose of 200 mg of itraconazole per day; those less than 13 years old or weighing less than 50 kg received a single dose of 100 mg per day. The primary end point was severe fungal infection, as determined by histologic results or culture. RESULTS: One patient (who had not been compliant with the treatment) had a serious fungal infection while receiving itraconazole, as compared with seven who had a serious fungal infection while receiving placebo (P=0.10). No patient receiving itraconazole but five patients receiving placebo had a superficial fungal infection. No serious toxic effects were noted, although one patient had a rash and another had elevated results on liver-function tests; both of these effects resolved with the discontinuation of itraconazole. CONCLUSIONS: Itraconazole prophylaxis appears to be an effective and well-tolerated treatment that reduces the frequency of fungal infections in chronic granulomatous disease, but monitoring for long-term toxic effects is warranted.  (+info)

A rare case of pulmonary bronchogenic cyst associated with bronchial atresia in the same lobe. (6/535)

A rare case of 49-year-old woman having pulmonary bronchogenic cyst associated with bronchial atresia in the same lobe was presented. The diagnosis was confirmed by aortography and operation specimen. Three-dimensional reconstructed images of computed tomography clearly demonstrated the defference between mucoid impaction of bronchial trees in the left S9 not communicating with hilar bronchus and the cyst in the left S10 oppressing surrounding vessels.  (+info)

A rare localization in right-sided endocarditis diagnosed by echocardiography: a case report. (7/535)

BACKGROUND: Right-sided endocarditis occurs predominantly in intravenous drug users, patients with pacemakers or central venous lines and with congenital heart diseases. The vast majority of cases involve the tricuspid valve. CASE PRESENTATION: A case of a 31-year-old woman with intravenous drug abuse who had a right-sided vegetation attached to the muscular bundle of the right ventricle is presented. Transthoracic echocardiography revealed a vegetation in the right ventricular outflow tract. Transesophageal echocardiography clearly showed that the 1.8 cm vegetation was not adherent to the pulmonary valve but attached to a muscular bundle. CONCLUSIONS: Our case points to an unusual location of right-sided endocarditis in intravenous drug users. It confirms that TTE remains an easy and highly sensitive first-line examination for the diagnosis of right-sided endocarditis.  (+info)

Management of Gaucher disease in a post-communist transitional health care system: Croatian experience. (8/535)

AIM: To evaluate the feasibility of financing the treatment of Gaucher disease with recombinant human imiglucerase in the Croatian health care system. METHODS: Treatment with enzyme replacement therapy of 5 patients with Gaucher disease was started on January 2001. In 4 patients the typical signs of Gaucher disease (organomegaly, bone changes, anemia, and thrombocytopenia) were documented at the time of diagnosis. One patient received bone marrow stem cell transplant as treatment for acute myeloid leukemia from a HLA-matching sibling with Gaucher disease. All patients underwent therapy with imiglucerase (Cerezyme) infusion every 14 days. The outcome and actual cost of the treatment were followed during 12 months. RESULTS: After 3 months of therapy, hemoglobin rose above low normal range in 2 patients. After 6 months, 3 patients had platelet count above 100x10(9)/L, and bone pain crises completely disappeared in patients with severe bone involvement. After 12 months, normal blood counts were restored in all patients. At the same time point, bone destruction remained unchanged in 3 patients and showed marked improvement in one. In agreement with the Ministry of Health, the Croatian Institute for Health Insurance restructured its funds and established a special "Fund for expensive drugs." This fund covers the treatment costs for patients with Gaucher disease (approximately 150,000 per patient per year) as well as the cost of treatment for patients with Fabry disease, AIDS, adenosine deaminase deficiency, multiple sclerosis, chronic myeloid leukemia, juvenile arthritis, and ovarian cancer. CONCLUSION: Collaboration of the institutions in a post-communist transition health care system can provide an effective model for financing expensive treatment for patients with rare diseases in a resource-poor health system.  (+info)

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.

An "Orphan Drug" is a pharmaceutical agent that is developed to treat a rare medical condition, disorder, or disease that affects a small number of people in comparison to other conditions. In the United States, this is defined as a condition or disease that affects fewer than 200,000 people nationwide. Due to the limited market for these drugs, pharmaceutical companies are often reluctant to invest in their development and production.

"Orphan Drug Production," therefore, refers to the manufacturing process of these rare disease treatments. To encourage the development and production of orphan drugs, governments and regulatory agencies offer incentives such as tax credits, grants, and exclusive marketing rights for a certain period of time. These measures help offset the higher costs and lower profit margins associated with developing and producing orphan drugs, ultimately benefiting patients with rare diseases who often have few or no treatment options available to them.

Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease that primarily affects women of childbearing age. It is characterized by the abnormal growth of smooth muscle cells in the airways, blood vessels, and lymphatic system of the lungs. These cells can form cysts and lesions that can obstruct the airways and cause lung function to decline over time.

LAM can also affect other organs, such as the kidneys, where it can cause angiomyolipomas (benign tumors composed of blood vessels, muscle cells, and fat). In some cases, LAM may be associated with tuberous sclerosis complex (TSC), a genetic disorder that causes benign tumors to grow in various organs of the body.

The exact cause of LAM is not fully understood, but it is believed to be related to mutations in the TSC1 or TSC2 genes, which regulate cell growth and division. There is currently no cure for LAM, but treatments such as lung transplantation and medications that suppress the growth of smooth muscle cells may help manage symptoms and slow disease progression.

Lithiasis is a medical term that refers to the formation of stones or calculi in various organs of the body. These stones can develop in the kidneys (nephrolithiasis), gallbladder (cholelithiasis), urinary bladder (cystolithiasis), or salivary glands (sialolithiasis). The stones are usually composed of minerals and organic substances, and their formation can be influenced by various factors such as diet, dehydration, genetic predisposition, and chronic inflammation. Lithiasis can cause a range of symptoms depending on the location and size of the stone, including pain, obstruction, infection, and damage to surrounding tissues. Treatment may involve medication, shock wave lithotripsy, or surgical removal of the stones.

Patient advocacy refers to the process of supporting and empowering patients to make informed decisions about their healthcare. Patient advocates may help patients communicate with healthcare providers, access necessary resources and services, understand their health conditions and treatment options, and navigate complex healthcare systems. They may also work to promote patient-centered care, raise awareness of patient rights and concerns, and advocate for policies that improve the quality and accessibility of healthcare services. Patient advocacy can be provided by healthcare professionals, family members, friends, or dedicated patient advocates.

'Drug legislation' refers to the laws and regulations that govern the production, distribution, sale, possession, and use of medications and pharmaceutical products within a given jurisdiction. These laws are designed to protect public health and safety by establishing standards for drug quality, ensuring appropriate prescribing and dispensing practices, preventing drug abuse and diversion, and promoting access to necessary medications. Drug legislation may also include provisions related to clinical trials, advertising, packaging, labeling, and reimbursement. Compliance with these regulations is typically enforced through a combination of government agencies, professional organizations, and legal penalties for non-compliance.

Actinomycosis is a type of infection caused by bacteria that are normally found in the mouth, intestines, and female genital tract. These bacteria can cause abscesses or chronic inflammation if they infect body tissues, often after trauma or surgery. The infection typically affects the face, neck, or chest, and can spread to other parts of the body over time. Symptoms may include swelling, redness, pain, and the formation of pus-filled abscesses that may discharge a characteristic yellowish granular material called "sulfur granules." Treatment typically involves long-term antibiotic therapy, often requiring high doses and intravenous administration. Surgical drainage or removal of infected tissue may also be necessary in some cases.

Pulmonary Alveolar Proteinosis (PAP) is a rare lung disorder characterized by the accumulation of surfactant, a lipoprotein complex that reduces surface tension within the alveoli, in the air sacs (alveoli) of the lungs. This accumulation can lead to difficulty breathing and reduced oxygen levels in the blood.

There are three types of PAP:

1. Congenital PAP: A very rare inherited form that affects infants and is caused by a genetic mutation that disrupts the production or function of granulocyte-macrophage colony-stimulating factor (GM-CSF), a protein important for the development and function of alveolar macrophages.

2. Secondary PAP: This form is associated with conditions that impair the clearance of surfactant by alveolar macrophages, such as hematologic disorders (e.g., leukemia), infections, exposure to inhaled irritants (e.g., silica dust), and certain medications.

3. Idiopathic PAP: The most common form, also known as autoimmune PAP, is caused by the development of autoantibodies against GM-CSF, which disrupts its function and leads to surfactant accumulation in the lungs.

Treatment for PAP may include whole lung lavage (WLL), a procedure where the affected lung is filled with saline solution and then drained to remove excess surfactant, as well as managing any underlying conditions. In some cases of idiopathic PAP, off-label use of inhaled GM-CSF has shown promise in improving symptoms and lung function.

X-ray computed tomography (CT or CAT scan) is a medical imaging method that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional (tomographic) images (virtual "slices") of the body. These cross-sectional images can then be used to display detailed internal views of organs, bones, and soft tissues in the body.

The term "computed tomography" is used instead of "CT scan" or "CAT scan" because the machines take a series of X-ray measurements from different angles around the body and then use a computer to process these data to create detailed images of internal structures within the body.

CT scanning is a noninvasive, painless medical test that helps physicians diagnose and treat medical conditions. CT imaging provides detailed information about many types of tissue including lung, bone, soft tissue and blood vessels. CT examinations can be performed on every part of the body for a variety of reasons including diagnosis, surgical planning, and monitoring of therapeutic responses.

In computed tomography (CT), an X-ray source and detector rotate around the patient, measuring the X-ray attenuation at many different angles. A computer uses this data to construct a cross-sectional image by the process of reconstruction. This technique is called "tomography". The term "computed" refers to the use of a computer to reconstruct the images.

CT has become an important tool in medical imaging and diagnosis, allowing radiologists and other physicians to view detailed internal images of the body. It can help identify many different medical conditions including cancer, heart disease, lung nodules, liver tumors, and internal injuries from trauma. CT is also commonly used for guiding biopsies and other minimally invasive procedures.

In summary, X-ray computed tomography (CT or CAT scan) is a medical imaging technique that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional images of the body. It provides detailed internal views of organs, bones, and soft tissues in the body, allowing physicians to diagnose and treat medical conditions.

"Drug approval" is the process by which a regulatory agency, such as the US Food and Drug Administration (FDA), grants formal authorization for a pharmaceutical company to market and sell a drug for a specific medical condition. The approval process is based on rigorous evaluation of clinical trial data to ensure that the drug is safe and effective for its intended use.

The FDA's approval process typically involves several stages, including preclinical testing in the lab and animal studies, followed by three phases of clinical trials in human subjects. The first phase tests the safety of the drug in a small group of healthy volunteers, while the second and third phases test the drug's efficacy and side effects in larger groups of patients with the medical condition for which the drug is intended.

If the results of these studies demonstrate that the drug is safe and effective, the pharmaceutical company can submit a New Drug Application (NDA) or Biologics License Application (BLA) to the FDA for review. The application includes data from the clinical trials, as well as information about the manufacturing process, labeling, and proposed use of the drug.

The FDA reviews the application and may seek input from independent experts before making a decision on whether to approve the drug. If approved, the drug can be marketed and sold to patients with the medical condition for which it was approved. The FDA continues to monitor the safety and efficacy of approved drugs after they reach the market to ensure that they remain safe and effective for their intended use.

Neuroaxonal dystrophies (NADs) are a group of inherited neurological disorders characterized by degeneration of the neuronal axons, which are the long extensions of nerve cells that transmit impulses to other cells. This degeneration leads to progressive loss of motor and cognitive functions.

The term "neuroaxonal dystrophy" refers to a specific pattern of abnormalities seen on electron microscopy in nerve cells, including accumulation of membranous structures called "spheroids" or "tubulovesicular structures" within the axons.

NADs can be caused by mutations in various genes that play a role in maintaining the structure and function of neuronal axons. The most common forms of NADs include Infantile Neuroaxonal Dystrophy (INAD) or Seitelberger's Disease, and Late-Onset Neuroaxonal Dystrophy (LONAD).

Symptoms of INAD typically begin between ages 6 months and 2 years, and may include muscle weakness, hypotonia, decreased reflexes, vision loss, hearing impairment, and developmental delay. LONAD usually presents in childhood or adolescence with symptoms such as ataxia, dysarthria, cognitive decline, and behavioral changes.

Currently, there is no cure for NADs, and treatment is focused on managing symptoms and improving quality of life.

A fatal outcome is a term used in medical context to describe a situation where a disease, injury, or illness results in the death of an individual. It is the most severe and unfortunate possible outcome of any medical condition, and is often used as a measure of the severity and prognosis of various diseases and injuries. In clinical trials and research, fatal outcome may be used as an endpoint to evaluate the effectiveness and safety of different treatments or interventions.

Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the abnormal proliferation and accumulation of dendritic cells called Langerhans cells in various tissues and organs of the body. These cells are part of the immune system and normally help to fight infection. However, in LCH, an overactive immune response leads to the excessive buildup of these cells, forming granulomas that can damage organs and impair their function.

The exact cause of LCH is not fully understood, but it is thought to involve genetic mutations that lead to uncontrolled cell growth and division. The disorder can affect people of any age, although it is most commonly diagnosed in children under the age of 15.

LCH can affect a single organ or multiple organs, depending on the severity and extent of the disease. Commonly affected sites include the bones, skin, lymph nodes, lungs, liver, spleen, and pituitary gland. Symptoms vary widely depending on the location and severity of the disease, but may include bone pain, rashes, fatigue, fever, weight loss, cough, and difficulty breathing.

Treatment for LCH depends on the extent and severity of the disease. In mild cases, observation and monitoring may be sufficient. More severe cases may require chemotherapy, radiation therapy, or surgery to remove affected tissues. In some cases, immunosuppressive drugs or targeted therapies that target specific genetic mutations may be used.

Overall, LCH is a complex and poorly understood disorder that requires careful evaluation and management by a team of medical specialists. While the prognosis for patients with LCH has improved in recent years, some cases can be life-threatening or lead to long-term complications.

Birt-Hogg-Dubé syndrome is a rare genetic disorder characterized by the development of multiple benign hair follicle tumors called fibrofolliculomas, as well as an increased risk of developing certain types of kidney cancer and lung cysts or pneumothorax (collapsed lung). The syndrome is caused by mutations in the folliculin (FLCN) gene.

Individuals with Birt-Hogg-Dubé syndrome may also have skin abnormalities such as trichodiscomas and acrochordons (skin tags), and some may experience spontaneous pneumothorax (collapsed lung) due to the development of lung cysts.

The kidney cancer that is associated with Birt-Hogg-Dubé syndrome is typically a type called renal cell carcinoma, which can be aggressive and life-threatening if not detected and treated early. Regular monitoring and screening for kidney cancer and lung abnormalities are recommended for individuals with this syndrome.

Health Level Seven (HL7) is a set of international standards for the transfer of clinical and administrative data between software applications used by various healthcare providers. The standards are developed and maintained by Health Level Seven International, an organization accredited by the American National Standards Institute.

The HL7 standards define the structure and format of the messages that are exchanged between different systems, such as electronic health records (EHRs), laboratory information systems, and radiology information systems. The messages contain clinical data, such as patient demographics, medication orders, and test results, as well as administrative data, such as billing information.

The HL7 standards are designed to be flexible and extensible, allowing for the integration of new data elements and message types as needed. They support a wide range of communication protocols, including file-based exchange, messaging using TCP/IP, and web services.

By providing a standardized way of exchanging healthcare data, HL7 helps to improve the efficiency and accuracy of care delivery, reduce costs, and enhance patient safety. It also facilitates the integration of disparate systems and enables the sharing of clinical data across different healthcare organizations.

Patient rights refer to the ethical principles, legal regulations, and professional guidelines that protect and ensure the autonomy, dignity, and well-being of patients during healthcare encounters. These rights encompass various aspects of patient care, including informed consent, privacy, confidentiality, access to medical records, freedom from abuse and discrimination, pain management, and communication with healthcare providers.

The specific components of patient rights may vary depending on the jurisdiction and legal framework but generally include:

1. Right to receive information: Patients have the right to obtain accurate, clear, and comprehensive information about their health status, diagnosis, treatment options, benefits, risks, and prognosis in a manner they can understand. This includes the right to ask questions and seek clarification.
2. Informed consent: Patients have the right to make informed decisions about their care based on complete and accurate information. They must be given sufficient time and support to consider their options and provide voluntary, informed consent before any treatment or procedure is performed.
3. Privacy and confidentiality: Patients have the right to privacy during medical examinations and treatments. Healthcare providers must protect patients' personal and medical information from unauthorized access, disclosure, or use.
4. Access to medical records: Patients have the right to access their medical records and obtain copies of them in a timely manner. They can also request amendments to their records if they believe there are errors or inaccuracies.
5. Freedom from discrimination: Patients have the right to receive care without discrimination based on race, ethnicity, national origin, religion, sex, sexual orientation, gender identity, age, disability, or socioeconomic status.
6. Pain management: Patients have the right to appropriate pain assessment and management, including access to palliative and hospice care when appropriate.
7. Refusal of treatment: Patients have the right to refuse any treatment or procedure, even if it may be life-saving, as long as they are competent to make that decision and understand the consequences.
8. Communication and language assistance: Patients have the right to clear, effective communication with their healthcare providers, including access to interpreters or other necessary language assistance services.
9. Respect and dignity: Patients have the right to be treated with respect, dignity, and consideration during all aspects of their care.
10. Complaint resolution: Patients have the right to voice concerns about their care and receive timely responses from healthcare providers or institutions. They also have the right to file complaints with regulatory bodies if necessary.

Biological ontologies are formal representations of knowledge in the biological sciences, which consist of standardized vocabularies and relationships between them. They provide a way to represent and organize complex concepts and relationships in a machine-readable format, enabling computational analysis and integration of diverse biological data. Ontologies can capture various levels of biological organization, from molecular interactions to whole organisms and ecosystems. Examples of widely used biological ontologies include the Gene Ontology (GO) for molecular functions and processes, the Cell Ontology (CL) for cell types, and the Chemical Entities of Biological Interest (ChEBI) ontology for small molecules.

Retroperitoneal fibrosis (RPF) is a rare and progressive condition characterized by the abnormal growth of fibrous tissue in the retroperitoneal space, which is the area behind the peritoneum (the lining that covers the abdominal cavity). This fibrous tissue can encase and compress vital structures such as the ureters, blood vessels, and nerves, leading to various symptoms.

RPF can be idiopathic (without a known cause) or secondary to other conditions like infections, malignancies, autoimmune diseases, or medications. The exact pathogenesis of RPF is not fully understood, but it's believed that an abnormal immune response and inflammation play significant roles in its development.

Symptoms of RPF may include:

1. Flank pain or back pain
2. Renal insufficiency or kidney failure due to ureteral compression
3. Hydronephrosis (dilatation of the renal pelvis and calyces)
4. Deep vein thrombosis (DVT) or pulmonary embolism (PE) due to vascular compression
5. Neurological symptoms due to nerve compression
6. Weight loss, fatigue, and fever (in some cases)

Diagnosis of RPF typically involves imaging studies such as computed tomography (CT) scans or magnetic resonance imaging (MRI), along with laboratory tests and sometimes biopsy for confirmation. Treatment options depend on the underlying cause but generally involve immunosuppressive medications, corticosteroids, and surgical intervention in severe cases.

Histiocytoma is a general term used to describe a group of disorders characterized by an abnormal accumulation or proliferation of histiocytes, which are a type of immune cell. These cells normally play a role in fighting infection and helping to heal wounds. However, when they multiply excessively, they can form tumors known as histiocytomas.

There are several types of histiocytomas, including:

1. Cutaneous histiocytoma: This is the most common type of histiocytoma, which typically appears as a small, raised, hairless, and pink or red bump on the skin. It usually affects dogs, but can also occur in cats and rarely in humans. These tumors are benign and often regress spontaneously within a few months.
2. Systemic histiocytoses: These are less common types of histiocytomas that involve multiple organs and tissues throughout the body. They can be further classified into several subtypes, such as Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), and malignant histiocytosis. These conditions can range from benign to malignant and may require aggressive treatment, including chemotherapy or radiation therapy.

It is important to note that while histiocytomas are generally benign, they can sometimes mimic other more serious conditions. Therefore, it is essential to have any suspicious growths evaluated by a veterinarian or healthcare professional for proper diagnosis and management.

The European Union (EU) is not a medical term or organization, but rather a political and economic union of 27 European countries. It is primarily involved in matters related to policy, law, and trade, and does not have a direct role in the provision or regulation of healthcare services, except in certain specific areas such as pharmaceutical regulations and cross-border healthcare directives.

Therefore, there is no medical definition for "European Union."

The "drug industry" is also commonly referred to as the "pharmaceutical industry." It is a segment of the healthcare sector that involves the research, development, production, and marketing of medications or drugs. This includes both prescription and over-the-counter medicines used to treat, cure, or prevent diseases and medical conditions in humans and animals.

The drug industry comprises various types of organizations, such as:

1. Research-based pharmaceutical companies: These are large corporations that focus on the research and development (R&D) of new drugs, clinical trials, obtaining regulatory approvals, manufacturing, and marketing their products globally. Examples include Pfizer, Johnson & Johnson, Roche, and Merck.

2. Generic drug manufacturers: After the patent for a brand-name drug expires, generic drug manufacturers can produce and sell a similar version of the drug at a lower cost. These companies must demonstrate that their product is bioequivalent to the brand-name drug in terms of safety, quality, and efficacy.

3. Biotechnology companies: These firms specialize in developing drugs using biotechnological methods, such as recombinant DNA technology, gene therapy, or monoclonal antibodies. Many biotech companies focus on specific therapeutic areas, like oncology, immunology, or neurology.

4. Contract research organizations (CROs): CROs provide various services to the drug industry, including clinical trial management, data analysis, regulatory affairs support, and pharmacovigilance. They work with both large pharmaceutical companies and smaller biotech firms to help streamline the drug development process.

5. Drug delivery system companies: These organizations focus on developing innovative technologies for delivering drugs more effectively and safely to patients. Examples include transdermal patches, inhalers, or long-acting injectables.

6. Wholesalers and distributors: Companies that purchase drugs from manufacturers and distribute them to pharmacies, hospitals, and other healthcare providers.

The drug industry plays a crucial role in improving public health by discovering, developing, and delivering new treatments for various diseases and medical conditions. However, it is also subject to criticism and regulation due to concerns about high drug prices, marketing practices, and the potential for conflicts of interest between industry and healthcare professionals.

The United States Food and Drug Administration (FDA) is a federal government agency responsible for protecting public health by ensuring the safety, efficacy, and security of human and veterinary drugs, biological products, medical devices, our country's food supply, cosmetics, and products that emit radiation. The FDA also provides guidance on the proper use of these products, and enforces laws and regulations related to them. It is part of the Department of Health and Human Services (HHS).

Inborn urea cycle disorders (UCDs) are a group of rare genetic metabolic disorders caused by deficiencies in one of the enzymes or transporters that make up the urea cycle. The urea cycle is a series of biochemical reactions that occur in liver cells, responsible for removing ammonia, a toxic byproduct of protein metabolism, from the bloodstream.

In UCDs, the impaired function of these enzymes or transporters leads to an accumulation of ammonia in the blood (hyperammonemia), which can cause irreversible brain damage and severe neurological symptoms if left untreated. These disorders are usually inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.

There are six main types of UCDs, classified based on the specific enzyme or transporter deficiency:

1. Carbamoyl phosphate synthetase I (CPS1) deficiency
2. Ornithine transcarbamylase (OTC) deficiency
3. Argininosuccinic aciduria (ASA)
4. Citrullinemia type I or II (CTLN1, CTLN2)
5. Arginase deficiency
6. N-acetylglutamate synthetase (NAGS) deficiency

Symptoms of UCDs can vary widely depending on the severity and specific type of the disorder but may include:

* Vomiting
* Lethargy or irritability
* Seizures
* Tremors or seizure-like activity
* Developmental delays or intellectual disability
* Coma

Early diagnosis and treatment are crucial to prevent long-term neurological damage. Treatment options include dietary restrictions, medications that help remove ammonia from the body, and liver transplantation in severe cases. Regular monitoring of blood ammonia levels and other metabolic markers is essential for managing UCDs effectively.

Erdheim-Chester Disease (ECD) is a rare, progressive histiocytic disorder, characterized by the accumulation of immune cells called histiocytes in various parts of the body. These histiocytes are derived from myeloid precursors and infiltrate different organs and tissues, leading to inflammation, fibrosis, and subsequent damage.

The clinical presentation of ECD is heterogeneous, with symptoms depending on the affected organs. Commonly involved sites include bones (particularly long bones), central nervous system, heart, lungs, skin, and kidneys. Symptoms may range from bone pain, fatigue, and weight loss to neurological manifestations, cardiac dysfunction, respiratory distress, and renal impairment.

Diagnosis of ECD typically involves a combination of imaging studies (such as X-rays, CT scans, MRI, or PET scans), biopsy with histopathological examination, and immunohistochemical analysis to confirm the presence of characteristic histiocytic infiltrates. Genetic testing may also be performed to identify potential genetic mutations associated with ECD.

Treatment options for ECD depend on the extent and severity of organ involvement. Current therapeutic approaches include:

1. Targeted therapy with kinase inhibitors, such as imatinib or vemurafenib, which have shown efficacy in reducing histiocytic infiltration and improving symptoms.
2. Chemotherapy using agents like cladribine or cyclophosphamide, which can help control the disease's progression.
3. Immunosuppressive therapy with corticosteroids or interferon-alpha to manage inflammation and immune response.
4. Radiation therapy for localized bone lesions or symptomatic relief.
5. Supportive care to address specific organ dysfunction, such as heart failure management or respiratory support.

Due to the rarity of ECD, treatment decisions are often made in consultation with multidisciplinary teams experienced in managing histiocytic disorders. Clinical trials evaluating novel therapeutic strategies are also essential for advancing our understanding and improving outcomes for patients with ECD.

Eosinophilic granuloma is a term used in pathology to describe a specific type of inflammatory lesion that is characterized by the accumulation of eosinophils, a type of white blood cell, and the formation of granulomas. A granuloma is a small nodular structure formed by the accumulation of immune cells, typically including macrophages, lymphocytes, and other inflammatory cells.

Eosinophilic granulomas can occur in various organs of the body, but they are most commonly found in the lungs, skin, and bones. In the lungs, eosinophilic granulomas are often associated with hypersensitivity reactions to inhaled antigens, such as dust mites or fungal spores. They can also be seen in association with certain diseases, such as Langerhans cell histiocytosis, an uncommon disorder characterized by the abnormal proliferation of a type of immune cell called Langerhans cells.

The symptoms of eosinophilic granuloma depend on the location and extent of the lesion. In the lungs, eosinophilic granulomas may cause cough, chest pain, or shortness of breath. In the skin, they may present as nodules, plaques, or ulcers. In the bones, they can cause pain, swelling, and fractures.

The diagnosis of eosinophilic granuloma is typically made based on a combination of clinical, radiological, and pathological findings. Treatment may include avoidance of known antigens, corticosteroids, or other immunosuppressive medications, depending on the severity and location of the lesion.

Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of swelling in various parts of the body, including the face, lips, tongue, throat, hands, feet, and/or genitals. The swelling can also affect the gastrointestinal tract, causing abdominal pain, nausea, vomiting, and diarrhea.

HAE is caused by a deficiency or dysfunction of the C1 inhibitor protein, which is a part of the body's immune system that helps regulate inflammation and blood vessel dilation. As a result, people with HAE have uncontrolled activation of the complement system and increased levels of bradykinin, a potent vasodilator that causes the characteristic swelling.

There are three types of HAE: type I, type II, and type III. Type I and type II are caused by mutations in the gene that codes for the C1 inhibitor protein, resulting in low levels or dysfunctional C1 inhibitor protein. Type III is caused by a mutation in the coagulation factor XII gene, leading to overactivation of the contact system and increased bradykinin production.

HAE is an inherited disorder, typically passed down from parent to child in an autosomal dominant pattern. This means that a person has a 50% chance of inheriting the mutated gene from an affected parent and developing HAE. However, up to 25% of cases may occur spontaneously due to new mutations in the gene.

Treatment for HAE includes medications to prevent or reduce the severity and frequency of attacks, such as C1 inhibitor replacement therapy, attenuated androgens, and monoclonal antibodies against kallikrein. In addition, acute attacks can be treated with on-demand therapies, such as plasma-derived C1 inhibitor, icatibant, and ecallantide.

Iron metabolism disorders are a group of medical conditions that affect the body's ability to absorb, transport, store, or utilize iron properly. Iron is an essential nutrient that plays a crucial role in various bodily functions, including oxygen transportation and energy production. However, imbalances in iron levels can lead to several health issues.

There are two main types of iron metabolism disorders:

1. Iron deficiency anemia (IDA): This condition occurs when the body lacks adequate iron to produce sufficient amounts of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. Causes of IDA may include inadequate dietary iron intake, blood loss, or impaired iron absorption due to conditions like celiac disease or inflammatory bowel disease.
2. Hemochromatosis: This is a genetic disorder characterized by excessive absorption and accumulation of iron in various organs, including the liver, heart, and pancreas. Over time, this excess iron can lead to organ damage and diseases such as cirrhosis, heart failure, diabetes, and arthritis. Hemochromatosis is typically caused by mutations in the HFE gene, which regulates iron absorption in the intestines.

Other iron metabolism disorders include:

* Anemia of chronic disease (ACD): A type of anemia that occurs in individuals with chronic inflammation or infection, where iron is not efficiently used for hemoglobin production due to altered regulation.
* Sideroblastic anemias: These are rare disorders characterized by the abnormal formation of ringed sideroblasts (immature red blood cells containing iron-laden mitochondria) in the bone marrow, leading to anemia and other symptoms.
* Iron-refractory iron deficiency anemia (IRIDA): A rare inherited disorder caused by mutations in the TMPRSS6 gene, resulting in impaired regulation of hepcidin, a hormone that controls iron absorption and distribution in the body. This leads to both iron deficiency and iron overload.

Proper diagnosis and management of iron metabolism disorders are essential to prevent complications and maintain overall health. Treatment options may include dietary modifications, iron supplementation, phlebotomy (bloodletting), or chelation therapy, depending on the specific disorder and its severity.

Medical Laboratory Personnel are professionals who perform and interpret various laboratory tests to assist physicians in diagnosing, monitoring, and treating diseases and other medical conditions. They work in different areas of the clinical laboratory such as chemistry, hematology, immunology, microbiology, and transfusion medicine.

Their responsibilities may include collecting and processing specimens, operating and maintaining laboratory equipment, performing tests and procedures, analyzing results, conducting quality control, maintaining records, and reporting findings to healthcare providers. Medical Laboratory Personnel play a critical role in ensuring the accuracy and timeliness of diagnostic information, which is essential for providing effective medical care.

Medical Laboratory Personnel may hold various job titles, including Medical Laboratory Technologist (MLT), Medical Laboratory Scientist (MLS), Clinical Laboratory Scientist (CLS), Medical Technologist (MT), Medical Laboratory Technician (MLT), and Clinical Laboratory Technician (CLT). The specific duties and educational requirements for these positions may vary depending on the laboratory setting, state regulations, and professional certification.

Epidermolysis Bullosa (EB) is a group of rare inherited skin disorders that are characterized by the development of blisters, erosions, and scarring following minor trauma or friction. The condition results from a genetic defect that affects the structural proteins responsible for anchoring the epidermis (outer layer of the skin) to the dermis (inner layer of the skin).

There are several types of EB, which vary in severity and clinical presentation. These include:

1. Epidermolysis Bullosa Simplex (EBS): This is the most common form of EB, and it typically affects the skin's superficial layers. Blistering tends to occur after minor trauma or friction, and healing usually occurs without scarring. There are several subtypes of EBS, which vary in severity.
2. Junctional Epidermolysis Bullosa (JEB): This form of EB affects the deeper layers of the skin, and blistering can occur spontaneously or following minor trauma. Healing often results in scarring, and affected individuals may also experience nail loss, dental abnormalities, and fragile mucous membranes.
3. Dystrophic Epidermolysis Bullosa (DEB): DEB affects the deeper layers of the skin, and blistering can lead to significant scarring, contractures, and fusion of fingers and toes. There are two main subtypes of DEB: recessive DEB (RDEB), which is more severe and associated with a higher risk of skin cancer, and dominant DEB (DDEB), which tends to be milder.
4. Kindler Syndrome: This is a rare form of EB that affects both the epidermis and dermis. Blistering can occur spontaneously or following minor trauma, and affected individuals may experience photosensitivity, poikiloderma (a mottled skin appearance), and oral and gastrointestinal abnormalities.

Treatment for EB typically focuses on managing symptoms, preventing blister formation and infection, and promoting wound healing. There is currently no cure for EB, but research is ongoing to develop new therapies and treatments.

Breast neoplasms in males refer to abnormal growths or tumors in the male breast tissue. These neoplasms can be benign (non-cancerous) or malignant (cancerous). While breast cancer is much less common in men than in women, it can still occur and should be taken seriously.

The most common type of breast cancer in men is invasive ductal carcinoma, which starts in the milk ducts and spreads to surrounding tissue. Other types of breast cancer that can occur in men include inflammatory breast cancer, lobular carcinoma, and Paget's disease of the nipple.

Risk factors for developing male breast cancer include age (most cases are diagnosed after age 60), family history of breast cancer, genetic mutations such as BRCA1 or BRCA2, radiation exposure, obesity, liver disease, and testicular conditions such as undescended testicles.

Symptoms of male breast neoplasms may include a painless lump in the breast tissue, skin changes such as dimpling or redness, nipple discharge, or a retracted nipple. If you notice any of these symptoms, it is important to consult with a healthcare professional for further evaluation and treatment.

"Academies and Institutes" in a medical context typically refer to organizations that are dedicated to advancing knowledge, research, and education in a specific field of medicine or healthcare. These organizations often bring together experts and leaders in the field to share knowledge, conduct research, and develop guidelines or policies. They may also provide training and certification for healthcare professionals.

Examples of medical academies and institutes include:

* The National Academy of Medicine (NAM) in the United States, which provides independent, objective analysis and advice to the nation on medical and health issues.
* The Royal College of Physicians (RCP) in the United Kingdom, which is a professional body dedicated to improving the practice of medicine, with a particular focus on physicians.
* The American Heart Association (AHA) and the American College of Cardiology (ACC), which are two leading organizations focused on cardiovascular disease and healthcare.
* The World Health Organization (WHO) is an international organization that coordinates and directs global health activities, including research, policy-making, and service delivery.

These institutions play a crucial role in shaping medical practice and policy by providing evidence-based recommendations and guidelines, as well as training and certification for healthcare professionals.

"Tropheryma" is a genus of bacteria that includes the species "Tropheryma whipplei," which is the causative agent of Whipple's disease, a rare systemic infection that primarily affects the small intestine. The bacteria are gram-positive, rod-shaped, and have a unique ability to survive and replicate within human host cells, contributing to their pathogenicity. Infection typically occurs through the ingestion of contaminated food or water, and symptoms can include diarrhea, abdominal pain, weight loss, and various other systemic manifestations.

Treatment outcome is a term used to describe the result or effect of medical treatment on a patient's health status. It can be measured in various ways, such as through symptoms improvement, disease remission, reduced disability, improved quality of life, or survival rates. The treatment outcome helps healthcare providers evaluate the effectiveness of a particular treatment plan and make informed decisions about future care. It is also used in clinical research to compare the efficacy of different treatments and improve patient care.

Biomedical research is a branch of scientific research that involves the study of biological processes and diseases in order to develop new treatments and therapies. This type of research often involves the use of laboratory techniques, such as cell culture and genetic engineering, as well as clinical trials in humans. The goal of biomedical research is to advance our understanding of how living organisms function and to find ways to prevent and treat various medical conditions. It encompasses a wide range of disciplines, including molecular biology, genetics, immunology, pharmacology, and neuroscience, among others. Ultimately, the aim of biomedical research is to improve human health and well-being.

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 search can be done on the Genetic and Rare Diseases website for a list of disease advocacy organizations. A Genetic and Rare ... The ICD coding for rare diseases is the International Classification of Diseases code used for the purpose of documenting rare ... Of the approximately 7,000 rare diseases, only about 500 have a specific code. However, more than 5400 rare diseases are ... making rare diseases visible in health information systems through appropriate coding". Orphanet Journal of Rare Diseases. 10 ( ...
"Rare Disease Day 2018 - 28 Feb". Rare Disease Day - 28 Feb 2018. "Canadian Organization for Rare Disorders". www.raredisorders. ... There are an estimated 20-30 million people living with rare diseases in Europe alone, and an estimated 6,000 rare diseases. ... alliance of patient organisations and individuals active in the field of rare diseases that promotes research on rare diseases ... Canadian Organization for Rare Disorders (CORD) in Canada, Organization for Rare Diseases India (ORDI) in India, Allianz ...
The Rare Diseases Clinical Research Network (RDCRN) is an initiative of the US Office of Rare Diseases Research (ORDR). RDCRN ... The following is a timeline of the Rare Diseases Clinical Research Network: As a result of the Rare Diseases Act of 2002, on ... Rare Diseases Clinical Research Network (RDCRN) NIH Office of Rare Diseases Research (ORDR) RDCRN Contact Registry (Wikipedia ... "Rare Disease Act of 2002" (PDF). "NIH funding bolsters rare diseases research collaborations". National Center for Advancing ...
The Orphanet Journal of Rare Diseases is a peer-reviewed open access medical journal covering research on rare diseases. It was ... Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and ... Readers can find contributions which are directly from patients affected by a rare disease or about events, such as the Rare ... The journal publishes reviews on specific rare diseases, as well as articles on clinical trial outcome reports (positive or ...
"The Office of Rare Diseases Research (ORDR)". Rare Diseases Clinical Research Network. Retrieved 8 July 2018. "Office of Rare ... that oversees the Rare Diseases Clinical Research Network and Genetic and Rare Diseases Information Center. The Office of Rare ... The Office of Rare Diseases Research is a division of the US National Center for Advancing Translational Sciences (NCATS) ... Its responsibilities were mandated by statute by the Rare Diseases Act of 2002. In 2011, the office became part of the newly ...
Text of the Rare Diseases Act of 2002 NIH Office of Rare Diseases Research (Articles with short description, Short description ... "Text of the Rare Diseases Act of 2002" (PDF). NIH. Retrieved October 1, 2012. "NIH Establishes Rare Diseases Clinical Research ... "Rare Diseases Act of 2002". GovTrackUS. Retrieved October 1, 2012. Kerber, Grant (2012-10-12). "NIH Office of Rare Disease ... "Rare Diseases". medlineplus.gov. Retrieved 2019-11-20. "Rare Diseases Act of 2001". GovTrackUS. Retrieved October 1, 2012. " ...
ICD coding for rare diseases List of rare disease organisations Orphanet Journal of Rare Diseases (academic journal) Rare ... Rare Diseases Clinical Research. "About Us". Rare Diseases Clinical Research Network. The UK Strategy for Rare Diseases (PDF). ... "Rare Disease Act of 2002". United States Congress. Retrieved 21 January 2022. "Rare diseases: what are we talking about?". Rare ... ICD-11 FAQ Database of rare diseases at GARD, The United States Genetic and Rare Diseases Information Center Database of rare ...
Rare 2030: a foresight study for the future of rare disease management in Europe (Rare diseases). ... A Center of expertise for rare diseases is a physical expert structure for the management and care of rare disease patients. In ... "Centres of Excellence for Rare Diseases (2013)". Rare Disease UK. 2013-02-28. Archived from the original on 2021-01-15. ... "Working with the WHO". Rare Diseases International. Retrieved 2020-11-24. "An Agreement with the WHO". Rare Diseases ...
An ultra-rare disease is a disease that affects an extremely small percentage of the population. In some parts of the world, an ... ultra-orphan disease is a rare disease whose rarity means there is a lack of a market large enough to have support and ... Dear, JW; Lilitkarntakul, P; Webb, DJ (September 2006). "Are rare diseases still orphans or happily adopted? The challenges of ... Orphan drug Crooke, Stanley T. (June 2021). "A call to arms against ultra-rare diseases". Nature Biotechnology. 39 (6): 671-677 ...
"Rare Disease Day 2019 - 28 Feb - News". Rare Disease Day - 28 Feb 2019. 28 February 2018. Rare Disease Day official site Rare ... "Rare Disease Day 2019 - 28 Feb". Rare Disease Day - 28 Feb 2019. "February 29 is Rare Disease Day in Europe". Novartis. ... "Rare Disease Day 2019 - 28 Feb - Serbia". Rare Disease Day - 28 Feb 2019. Retrieved 2019-03-01. "Rare Disease Day 2021 - 28 Feb ... In 2009, Rare Disease Day went global as the National Organization for Rare Disorders mobilized 200 rare disease patient ...
The caucus works closely with the Rare Disease Legislative Advocates group. The Rare Disease Legislative Caucus aims to ... Denotes Co-Chair * Denotes co-chair "Rare Disease Legislative Advocates". Rare Disease Legislative Advocates. Retrieved 2016-04 ... The Rare Disease Legislative Caucus is a bipartisan congressional caucus open to all members of the United States House and ... The bipartisan Rare Disease Legislative Caucus was established in 2009 by original GOP Co-chair Congressman Fred Upton (R-MI), ...
"Cure Rare Disease". www.cureraredisease.org. Retrieved 2022-07-22. Cure Rare Disease's Website Cure Rare Disease on the TODAY ... addition of notable researchers and institutions collaborating with Cure Rare Disease on their mission to treat rare disease. ... Cure Rare Disease is a non-profit biotechnology company based in Boston, Massachusetts that is working to create novel ... Cure Rare Disease is developing novel therapeutics using gene replacement, gene editing (CRISPR gene-editing) and antisense ...
... the disease can be considered rare enough to allow the rare disease assumption. Unfortunately, the magnitude of discrepancy ... Despite fulfilling the rare disease assumption overall, the OR and RR can hardly be considered to be approximately the same. ... The rare disease assumption is a mathematical assumption in epidemiologic case-control studies where the hypothesis tests the ... The rare disease assumption can be demonstrated mathematically using the definitions for relative risk and odds ratio. With ...
Individuals who are 18 years of age and older and have a rare disease, are a caregiver for someone with a rare disease, or an ... Established by Congress under the Rare Diseases Act of 2002, the RDCRN is an initiative of the Office of Rare Diseases Research ... "Home , Rare Diseases Clinical Research Network". rdcrn.org. Retrieved 2022-03-15. Rare Diseases Clinical Research Network ( ... It connects patients with researchers in order to advance rare disease research. The Rare Diseases Clinical Research Network ( ...
The World Association of Cured Rare Diseases (WACRD) Care-For-Rare-Foundation Rare Disease UK Rare Autoinflammatory Conditions ... The Office of Rare Diseases Research (ORDR) Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) Rare Kids ... Rare Diseases Ghana Hemophilia Foundation of Nigeria Rare Disease Nigeria Cardiac Community ORGANIZATION FOR RARE DISEASES ... E-Rare) European Union Committee of Experts on Rare Diseases (EUCERD) INNOVCare RD-Connect European Platform for Rare Disease ...
The disease is so rare that the National Organization for Rare Diseases does not even mention Copenhagen disease in their ... The disease is rare, with most cases found in Europe and very few cases reported in North America. Copenhagen disease gets its ... "Rare Disease Database". NORD (National Organization for Rare Disorders). Archived from the original on 2015-12-09. Retrieved ... In Scheuermann's disease, however, it is very rare for adults to develop ankylosis in their adult life. The largest series of ...
EURODIS - Rare Diseases Europe (EURODIS) is a unique, non-profit alliance of over 700 rare disease patient organizations across ... CoRDS - Coordination of Rare Diseases at Sanford (CoRDS) is a centralized international patient registry for all rare diseases ... "Glycogen Storage Disease Type I - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare ... Rare diseases, Diseases of liver, Muscular disorders, Metabolic disorders). ...
"Von Hippel-Lindau Disease". Rare Disease Database. NORD - National Organization for Rare Disorders. 2019. Archived from the ... Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-04-17. ... of VHL disease and are specific because 80% are found in VHL disease. Although all of these tumours are common in VHL disease, ... Von Hippel-Lindau disease (VHL), also known as Von Hippel-Lindau syndrome, is a rare genetic disorder with multisystem ...
"Light chain deposition disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih ... "Light chain deposition disease". Gard rare disease information. National organization for rare disorders. Retrieved 26 July ... Light chain deposition disease (LCDD) is a rare blood cell disease which is characterized by deposition of fragments of ... National Institutes of Health Genetic and Rare Diseases Information Center Emedicine (Articles with short description, Short ...
"BBC Health: Kawasaki Disease". 31 March 2009. Archived from the original on 9 February 2011. "Rare heart disease rate doubles ... Kawasaki disease is rare. It affects between 8 and 67 per 100,000 people under the age of five except in Japan, where it ... Adult onset of Kawasaki disease is rare. The presentation differs between adults and children: in particular, it seems that ... Children with Kawasaki disease should be hospitalized and cared for by a physician who has experience with this disease. In an ...
"Wolman disease , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved ... Wolman disease and Cholesteryl ester storage disease are both autosomal recessive diseases. Wolman disease in predominantly ... "Cholesteryl Ester Storage Disease - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare ... Three rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase: Lysosomal acid lipase ...
... efficient rare disease research can be accomplished by working together." Lysosomal storage diseases "Batten Disease Fact Sheet ... May 2012). "Females experience a more severe disease course in Batten disease". Journal of Inherited Metabolic Disease. 35 (3 ... Eponymous diseases, Neurodegenerative disorders, Neurological disorders in children, Rare diseases, Disorders causing seizures ... Batten disease is rare; misdiagnosis may lead to increased medical expenses, family stress, and the chance of using incorrect ...
Silve, Caroline; Jüppner, Harald (2006-09-22). "Ollier disease". Orphanet Journal of Rare Diseases. 1: 37. doi:10.1186/1750- ... Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign cartilaginous tumors (enchondromas ... Silve C, Jüppner H (2006). "Ollier disease". Orphanet J Rare Dis. 1: 37. doi:10.1186/1750-1172-1-37. PMC 1592482. PMID 16995932 ... Also, neural compressions are more commonly found in HME than in Ollier disease. The condition of Ollier disease cannot be ...
Shenoy, B. V; Carpenter, P. C; Carney, J. A (1984). "Bilateral primary pigmented nodular adrenocortical disease. Rare cause of ... Bertherat, Jérôme (2006). "Carney complex (CNC)". Orphanet Journal of Rare Diseases. 1: 21. doi:10.1186/1750-1172-1-21. PMC ... "CT Findings of Primary Pigmented Nodular Adrenocortical Disease: Rare Cause of ACTH-Independent Cushing Syndrome". American ... PPNAD is a rare cause of high cortisol levels in the blood and often manifests as ACTH-independent Cushing's syndrome. The ...
"Machado-Joseph Disease: from first descriptions to new perspectives". Orphanet Journal of Rare Diseases. 6: 35. doi:10.1186/ ... Machado-Joseph disease (MJD), also known as Machado-Joseph Azorean disease, Machado's disease, Joseph's disease or ... "Paralysis island: 'slowly the disease kills them'". 10 November 2016. Retrieved 14 November 2016. "Machado-Joseph Disease Fact ... is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in ...
Microvillus inclusion disease is extremely rare, however, no prevalence data have been published. An estimate of a few hundred ... Microvillus inclusion disease, previously known as Davidson's disease, congenital microvillus atrophy and, less specifically, ... Orphanet Journal of Rare Diseases. 1: 22. doi:10.1186/1750-1172-1-22. ISSN 1750-1172. PMC 1523325. PMID 16800870. Davidson GP, ... Microvillus inclusion disease was first described in 1978 by Davidson et al. It was originally described as familial ...
A rare form of this disease, known as Adult-Onset or Late-Onset Tay-Sachs disease, usually has its first symptoms during the ... Unlike other lysosomal storage diseases (e.g., Gaucher disease, Niemann-Pick disease, and Sandhoff disease), hepatosplenomegaly ... described what was then known about the disease: It is a curious fact that amaurotic family idiocy, a rare and fatal disease of ... Tay-Sachs disease, Autosomal recessive disorders, Lipid storage disorders, Rare diseases, Ashkenazi Jews topics, ...
... , also known as Köhlmeier-Degos disease or malignant atrophic papulosis, is an extremely rare condition caused by ... "Degos Disease - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved ... Köhlmeier-Degos disease) - A review". Orphanet Journal of Rare Diseases. 8: 10. doi:10.1186/1750-1172-8-10. ISSN 1750-1172. PMC ... In 1941, this disease was first described by Köhlmeier. However, it was not until 1942 that the disease was recognized as a new ...
Orphanet Journal of Rare Diseases. 5 (1). doi:10.1186/1750-1172-5-23. ISSN 1750-1172. Swami A, Kaur V (November 2017). "von ... "Canine von Willebrand Disease - Breed Summaries". ahdc.vet.cornell.edu. 2019-02-08. "Canine von Willebrand Disease". vetgen.com ... which attracted international attention in the disease. The eponymous name was assigned to the disease between the late 1930s ... GeneReviews/NCBI/NIH/UW entry on von Willebrand Disease NHLBI von Willebrand Disease Expert Panel (January 2008). The Diagnosis ...
Kikuchi's disease is a very rare disease mainly seen in Japan. Isolated cases are reported in North America, Europe, Asia, ... "Kikuchi disease". Genetic and Rare Diseases Information Center (GARD). Archived from the original on 8 May 2019. Retrieved 17 ... Bosch X, Guilabert A (23 May 2006). "Kikuchi-Fujimoto disease". Orphanet Journal of Rare Diseases. 1 (18): 18. doi:10.1186/1750 ... Lymphatic organ diseases, Lymphoid-related cutaneous conditions, Rare diseases). ...
A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000, affecting more than ... It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease ... A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More ... Frequently Asked Questions about Rare Diseases (National Human Genome Research Institute) Also in Spanish ...
A search can be done on the Genetic and Rare Diseases website for a list of disease advocacy organizations. A Genetic and Rare ... The ICD coding for rare diseases is the International Classification of Diseases code used for the purpose of documenting rare ... Of the approximately 7,000 rare diseases, only about 500 have a specific code. However, more than 5400 rare diseases are ... making rare diseases visible in health information systems through appropriate coding". Orphanet Journal of Rare Diseases. 10 ( ...
While the rarity of rare diseases means theyre often neglected by the medical establishment, artificial intelligence and ... of rare diseases lack an FDA-approved treatment. However, while the rarity of rare diseases means theyre often neglected by ... let alone the 400 million people who suffer from a rare disease. And at a time when these diseases are all-too often being ... Based in Israel, the company has built a platform which can not only scan the DNA data file of a patient with a rare disease, ...
The diseases in GeneMatcher are rare, affecting fewer than 200,000 people in the United States, and it can be difficult for ... Jacob has a rare disease discovered by an online gene matchmaker service that researchers are developing. ... They connect patients with rare diseases which clinicians may never have seen before. In the case of PhenomeCentral, however, ... The disease matchmaking consortium is almost like an online dating site where "you have to create a profile in order to find a ...
GARD Rare Diseases Archive - Page 4 of 404 - National Organization for Rare Disorders ... Please note that NORD provides this information for the benefit of the rare disease community. NORD is not a medical provider ... National Organization for Rare Disorders (NORD). 1900 Crown Colony Drive. Suite 310. Quincy, MA 02169. Phone: 617-249-7300 ... Copyright ©2023 NORD - National Organization for Rare Disorders, Inc. All rights reserved. ...
Rare Diseases Archive - National Organization for Rare Disorders ... Understanding Rare Disease. *. **Where to start*Rare Disease ... What Is the NORD Rare Disease Database?. With more than 1,200 rare disorders, you can explore rare disease reports that include ... NORD Rare Disease Report Ablepharon-Macrostomia Syndrome Also known as: AMS NORD Rare Disease Report Acanthocheilonemiasis Also ... NORD Rare Disease Report Achondrogenesis * También disponible en español. NORD Rare Disease Report Achondroplasia Also known as ...
The Human Phenotype Ontology (HPO) (used by the PhenIX computer program for the diagnosis of rare genetic diseases) was first ... This close cooperation has been of particular benefit to patients with rare hereditary diseases, as any progress made is ... The Ontology describes the phenotypic features recorded in relation to human diseases (in particular genetic diseases). It ... thereby making a major contribution to the early detection of rare genetic diseases. For its analysis, the program takes into ...
Funding available to help improve Rare Disease research at Newcastle University ... Our current funding opportunities that are available to help progress research in Rare Disease at Newcastle University. ... Andrew Blamire - Magnetic Resonance Imaging (MRI) of motor unit dynamics as a non-invasive disease biomarker in Spinal Muscular ... Helen Devine - Targeting Bile Acid Receptors in Motor Neuron Disease: Pre-clinical Modelling to Assess the Potential of ...
Tags rare disease Rare Diseases, Genomics and Public Health: An Expanding Intersection. Rare Disease Day is celebrated on the ... rare disease The need for a next-generation public health response to rare diseases.. In recognition of Rare Disease Day 2017, ... rare disease Rare Disease Day 2022: The Evolving Impact of Genomics and Precision Health. In celebration of Rare Disease Day ... Tags rare disease What do women (and men) want? Parents weigh in on genetic testing for rare diseases in children. Genetic ...
Sinus infection leads to rare disease; doctors develop innovative treatment. ... Routine Sinus Infection Leads to Rare Disease: Mucormycosis. Sinus infection leads to rare disease; doctors develop innovative ... The 49-year-old from Maricopa, Ariz., was diagnosed with a rare and deadly infection in her face called mucormycosis, which led ...
10.6M funds JAX center to fast-track treatment-focused research for rare genetic disorders. ... and collectively mutations cause from 7,000 to 10,000 different rare diseases. By definition, a rare disease affects fewer than ... "So much of the burden of pushing for cures for rare diseases has been on the shoulders of parents," says Cat Lutz, Ph.D.The ... In many cases, the challenges begin with what parents in the rare disease community term a "diagnostic odyssey," to pin down ...
Take a look at the top 10 rare diseases that you may never have heard of. ... Rare diseases are usually genetic, but environmental factors can play a role. ... Disease descriptions courtesy of the National Organization for Rare Disorders (NORD). To browse their extensive Rare Disease ... "Top 10 Rare Diseases" 7 September 2012.. HowStuffWorks.com. ,https://health.howstuffworks.com/diseases-conditions/rare/10-rare- ...
The aim of the research is to inform medical product development by better understanding how specific rare diseases progress ... to eventually use natural history models to augment the need for placebo arms in studies of drugs that target very rare disease ... Food and Drug Administration today announced it has awarded six new research grants for natural history studies in rare ... Though the diseases are individually rare, together, the 7,000 known rare diseases affect approximately 30 million Americans. ...
How research leads to treatments for rare diseases in hematology, endocrine/betabolic, and cardiology that affect over 400 ... Rare Disease View All Rare Disease Explore all of our disease and condition-related resources to learn more about your ... Rare Disease Resources With more than three decades of experience in rare diseases, our broad portfolio aims to address unmet ... of known rare diseases having one or more approved treatments.. At Pfizer, we believe that people living with a rare disease, ...
What is a rare disease? What is a rare disease?. Defined as a condition or disorder that affects fewer than 200,000 individuals ... Individuals who have a rare disease or are the parent/caregiver of an individual with a rare disease ... A Rare Disease Advisory Council (RDAC) acts as an advisory body that provides the rare community with a stronger voice in state ... While individuals with certain disorders may be rare, the total number of people with a rare disease is large. ...
... a rare genetic disease that leads to bleeding and immune deficiencies in babies. Their findings revolve around how cells cut ... How RNA processing goes awry in rare immune disease. Date:. July 13, 2022. Source:. Salk Institute. Summary:. Researchers have ... "How RNA processing goes awry in rare immune disease." ScienceDaily. www.sciencedaily.com. /. releases. /. 2022. /. 07. /. ... "How RNA processing goes awry in rare immune disease." ScienceDaily. ScienceDaily, 13 July 2022. ,www.sciencedaily.com. /. ...
... for a range of diseases including cardiometabolic disorders, infectious and inflammatory diseases, cancer, and rare genetic ... The long-term partners have been working together in the rare genetic disease space since 2009. Under the terms of the extended ... Molecular biologyNucleic acidsPharmacologyPreclinical developmentRare diseasesResearch and developmentRNARNA biologySystemic ... Drug discoveryDrug research and developmentGenetic diseasesMedicine, Diagnosis, and TherapeuticsMessenger RNAmiRNA (Nucleic ...
... families and carers around the world that are affected by rare diseases. ... 29 Februaryis Rare Disease Day Raising awareness and generating change for the 300 million people worldwide living with a rare ... Today is Rare Disease Day! We are inviting everyone to share their colours and raise awareness for the 300 million people ... In the run up to Rare Disease Day 2023 on 31 January at 5.30 CET, we hosted a webinar with guest speakers and medical experts… ...
... families and carers around the world that are affected by rare diseases. ... 29 Februaryis Rare Disease Day Raising awareness and generating change for the 300 million people worldwide living with a rare ... Today is Rare Disease Day! We are inviting everyone to share their colours and raise awareness for the 300 million people ... In the run up to Rare Disease Day 2023 on 31 January at 5.30 CET, we hosted a webinar with guest speakers and medical experts… ...
The Cost of Delayed Diagnosis in Rare Disease is a landmark report showing the cost savings of receiving a more timely ... "National Economic Burden of Rare Disease Study," which estimated that the economic impact of 379 rare diseases in 2019 was ... Wilson disease The study, which was presented at a September 14 briefing hosted by the Rare Disease Congressional Caucus, ... The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare ...
FDA Awards 19 Grants and Two Contracts Related to Rare Diseases, including ALS ... it has facilitated the approval of more than 80 rare disease products. Through this and other efforts focused on rare diseases ... the FDA Rare Neurodegenerative Disease Grant Program to promote medical product development for rare neurodegenerative diseases ... The Rare Neurodegenerative Disease Grant Program was established specifically for ALS and neurodegenerative conditions upon ...
... linked to reduced risk of autoimmune liver disease PSC (but not PBC). ... PSC is an autoimmune disease of the bile ducts in the liver. An autoimmune disease is where the body turns against its own ... research from the US shows that regular consumption of coffee is linked to a reduced risk of a rare autoimmune liver disease ... The disease damages the liver to the point of liver failure. It can also cause cancer of the bile duct. Liver transplant is ...
The Rare Disease Search Engine That Outperforms Google. A powerful new search engine designed to help diagnose rare diseases ... Rare diseases are inherently hard to diagnose. According to the European Organisation for Rare Disease, 25 per cent of ... However, rare diseases by definition are unlikely to have a high profile on the web. Whats more, searches are likely to be ... These guys have set up a bespoke search engine dedicated to the diagnosis of rare diseases called FindZebra, a name based on ...
Recognizing Rare Diseases. Posted on Feb. 28th, 2011 at 2:15pm. There are nearly 30 million people living with rare diseases in ... Due to the large number of rare diseases (more than 5,000) and low prevalence of each disease, resources that lead to cures can ... HomeTagRare Diseases About the Mead Johnson Journal. Welcome to the Mead Johnson Journal. The journal serves as a global ... On February 29, millions of people around the world will come together to observe Rare Disease Day. The annual global event is ...
... pictures and video about rare diseases - Page 1 , Newser ... Rare Disease. May Have Struck. Its 1st Female. in case you ... Parents Losing Both Sons to Rare Brain Disease. Theres no cure for Batten disease, and its fatal. (Newser) - Batten disease, ... Now a doctor whos been diagnosed with a rare and deadly disease, hes founded another organization, the Castleman Disease ... Rare Disease May Have Struck Its 1st Female. Sahana Khatun was hospitalized with bark-like warts on her face Sunday. (Newser) ...
... explaining in part why these diseases are rare and often deadly, according to a study appearing in The American Journal ... Mutations in genes essential to survival are behind so-called orphan diseases, ... An orphan or rare disease is defined as one affecting less than 200,000 Americans. There are 8,000 orphan diseases that ... "Previous studies on disease networks have not separated out these rare diseases, many of which are fatal while others induce ...
The development and implementation of a rare disease management program by healthcare providers and payors could greatly assist ... Rare Diseases: Facts and Statistics. Global Genes website. www.globalgenes.org/rare-diseases-facts-statistics/. Accessed July 8 ... Addressing all of these issues with an overall rare disease management strategy and within a specific rare disease state is ... prevalence rates vary widely among rare diseases. For example, a relatively well-known rare disease, cystic fibrosis, affects ...
Rare Disease Webinar Series: Watch Now *May 8, 2020. Medpace gathered experts in all areas of rare disease clinical research ... Spotlight on Rare Disease Clinical Development *August 27, 2020. There is a lot of uncertainty in the world right now, but one ... 2020 Rare Disease Webinar Series - Reserve Your Spot *February 6, 2020. In this three-part series of discussions with top ... New White Paper: The Intersection of Rare Diseases and Advanced Therapies and What it Means for Clinical Development *October ...
A pioneering drug for a rare kidney disease prevents organ failure and significantly improves the outcome for patients, new ... Pioneering drug for rare kidney disease improves outcome for patients. *Download PDF Copy ... A pioneering drug for a rare kidney disease prevents organ failure and significantly improves the outcome for patients, new ... The HR assistants diagnosis came out of the blue as she was the first in her family to have presented with the disease after ...
  • How will the market shares for each rare diseases submarket develop from 2023 to 2033? (visiongain.com)
  • With more than 1,200 rare disorders, you can explore rare disease reports that include information on symptoms, causes, treatments, clinical trials, and sources of help such as patient advocacy organizations. (rarediseases.org)
  • New five-year NIH grant totaling $10.6M funds JAX center to fast-track treatment-focused research for rare genetic disorders. (jax.org)
  • Disease descriptions courtesy of the National Organization for Rare Disorders (NORD). (howstuffworks.com)
  • There are approximately 7,000 rare diseases and 25-30 million Americans are affected by these rare disorders. (utah.gov)
  • While individuals with certain disorders may be rare, the total number of people with a rare disease is large. (utah.gov)
  • With its LNA Drug Platform and Drug Discovery Engine, Santaris combines LNA chemistry with specialized and targeted drug development capabilities to deliver LNA-based drug candidates against RNA targets, both mRNA and microRNA, for a range of diseases including cardiometabolic disorders, infectious and inflammatory diseases, cancer, and rare genetic disorders. (genengnews.com)
  • Also contributing to this market shift are the development of "lifestyle" drugs and other medications for newly discovered and sometimes vaguely defined disorders or disease syndromes that, heretofore, may have been traditionally considered part of the human living experience and aging process. (pharmacytimes.com)
  • There are now more than 7000 rare diseases recognized by the various organizations and governmental agencies that track, provide support, and coordinate research for the diagnosis and treatment of these disorders and diseases. (pharmacytimes.com)
  • Since 2007, the Philippine Society for Orphan Disorders (PSOD) has continuously submitted and refiled a draft to a number of lawmakers to sponsor a proposed law that will be titled "Rare Disease Act of the Philippines," should it pass both houses of Congress and signed into law. (inquirer.net)
  • Magdaraog said once a law is put in place, there will now be a permanent and sustainable mechanism by which the State shall institutionalize a system that is comprehensive, integrative and sustainable, and will facilitate the collaboration of various stakeholders toward the provision of early and sustainable care of every person afflicted with rare or orphan disorders. (inquirer.net)
  • Geneticists Emma Baple and Andrew Crosby previously discovered mutations in more than 15 genes that cause hereditary spastic paraplegia (HSP)-a group of rare inherited disorders characterized by leg muscle weakness and stiffness. (the-scientist.com)
  • As director of a treatment center that specializes in CIPA and related disorders, Axelrod has 35 patients with the disease on file. (allnurses.com)
  • Background: Fahr's syndrome (or Fahr's disease) is a rare idiopathic degenerative disorder, characterized by bilateral symmetrical intracranial calcification and manifested as movement disorders, dementia and other behavioural disturbances. (who.int)
  • Modern high-throughput genomic testing using next-generation sequencing (NGS) has led to a significant increase in the successful diagnosis of rare genetic disorders . (bvsalud.org)
  • Prion diseases are progressive, fatal, and untreatable degenerative brain disorders. (msdmanuals.com)
  • Transmission references Prion diseases are progressive, fatal, and untreatable degenerative brain disorders. (msdmanuals.com)
  • Both were referred by their GP to their local infectious diseases clinic and were given six months of itraconazole - medication used to treat fungal infections. (dailymail.co.uk)
  • Every day of the year, researchers at NIAID and NIAID-funded institutions collaborate with patients and their families to better understand, diagnose, and treat a spectrum of rare conditions-from immune deficiencies to infectious diseases. (nih.gov)
  • The past year also marked progress in understanding and addressing rare infectious diseases. (nih.gov)
  • For example, only 1 in 10 people who need assistive products has access to 1 Diseases affecting small numbers of patients, including diseases of genetic origin, infrequent forms of cancer, autoimmune diseases, toxic and/or infectious diseases, and congenital deformities. (who.int)
  • We reviewed the clinical manifestations and outcome of 20 cases of neurobrocellosis out of 1375 patients with brucellosis admitted to the infectious diseases ward of a tertiary hospital in Hamedan, Islamic Republic of Iran. (who.int)
  • Knowledge-based patient screening for rare and emerging infectious/parasitic diseases: a case study of brucellosis and murine typhus. (cdc.gov)
  • It can be difficult to clinically distinguish Ebola diseases symptoms from other infectious diseases such as malaria, typhoid fever and meningitis. (who.int)
  • This new study on the Cost of Delayed Diagnosis is a follow-up to the landmark 2021 " National Economic Burden of Rare Disease Study ," which estimated that the economic impact of 379 rare diseases in 2019 was nearly $1 trillion, with 60% of those costs being shouldered directly by families and society. (businesswire.com)
  • A gene therapy approach co-developed by NIAID scientists successfully re-built the immune systems of eight infants born with this fatal disease, researchers reported in spring 2019 . (nih.gov)
  • This report presents progress made in implementing resolution WHA70.12 (2017) on cancer prevention and control in the context of an integrated approach, on and access to health products for rare and orphan diseases1 (part A) and in implementing resolution WHA72.8 (2019) on improving the transparency of markets for medicines, vaccines, and other health products (part B). (who.int)
  • A rare disease is one that affects fewer than 200,000 people in the United States. (medlineplus.gov)
  • A rare disorder is a disease or condition that affects fewer than 200,000 Americans. (rarediseases.org)
  • By definition, a rare disease affects fewer than 200,000 people, but many represent just hundreds or even dozens of patients. (jax.org)
  • Rare diseases, as defined by the Orphan Drug Act, are diseases or conditions with a prevalence of less than 200,000 persons in the United States. (fda.gov)
  • In the United States, if the total number of individuals affected by a disease or disorder is less than 200,000-which equates to a prevalence rate of approximately 6.4 cases per 10,000 citizens-then it is considered a rare disease. (pharmacytimes.com)
  • Niamh n Ruarí was diagnosed with a disease that affects one in every 200,000 people, but is determined to re-educate society on the perceptions they have of those who are physically less fortunate. (thejournal.ie)
  • More than 200,000 people in China are diagnosed with such diseases every year, often struggling due to limited treatment methods and sky-high medical expenses. (news.cn)
  • The US Food and Drug Administration (FDA) defines a rare disease as occurring in less than 200,000 people in the United States. (medscape.com)
  • That means that as few as five people, or as many as 200,000, could have a rare disease. (medscape.com)
  • Obviously, such conditions as asthma or diabetes wouldn't qualify as rare diseases because many more than 200,000 people are affected with these conditions. (medscape.com)
  • In the United States, diseases that each affect less than 200,000 people are called "rare diseases. (medlineplus.gov)
  • In celebration of Rare Disease Day 2022, we reprint excerpts of four previous blogs. (cdc.gov)
  • John A. Sayer - Use of antisense oligonucleotides as personalised therapies for kidney disease. (ncl.ac.uk)
  • One of the challenges we encounter developing therapies for rare diseases is the lack of natural history data to guide the design of successful clinical trials," said Nora Yang, Ph.D., director of portfolio management and strategic operations in NCATS' Division of Pre-Clinical Innovation. (fda.gov)
  • Now, we're leading the way in an effort to deliver a new generation of breakthrough treatments across several modalities - small molecule, large molecule/monoclonal antibodies (mAbs), gene therapies and even devices - to potentially unlock the promise of science for the millions with rare diseases for whom the current standard of care falls short. (pfizer.com)
  • Several awards support the Accelerating Access to Critical Therapies for Amyotrophic Lateral Sclerosis Act (ACT for ALS) which recently established the FDA Rare Neurodegenerative Disease Grant Program to promote medical product development for rare neurodegenerative diseases such as ALS. (fda.gov)
  • Several studies seek to characterize certain subgroups within a disease, identify novel clinical outcome measures and biomarkers, which have the potential to improve the current standard of care and inform future drug development, including gene therapies. (fda.gov)
  • These challenges include access to, and validation of, clinical knowledge for a timely and effective diagnosis, treatment and maintenance therapies, and long-term prognosis due to very limited patient populations and individual provider expertise within each disease state. (pharmacytimes.com)
  • Read the press release for the latest whitepaper on advanced therapies and rare diseases published by Xtalks and Medpace. (medpace.com)
  • Founded in 2010, Ultragenyx has rapidly built a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear and for which there are no approved therapies. (drugdiscoverynews.com)
  • In the current climate, the development of innovative rare disease therapies is mostly global in nature due to the rarity of patients and experts, as well as to the fact that companies and investors have an increasingly international approach to the market. (eurordis.org)
  • Research through groups such as the International Rare Diseases Research Consortium (IRDiRC), initiated in 2009-2010 and whose objectives are to have diagnostic tools available for most rare diseases and to help deliver 200 new rare disease therapies, both by 2020. (eurordis.org)
  • AlveoGene will work on gene therapies for several rare lung conditions, beginning with alpha-1 antitrypsin deficiency. (imperial.ac.uk)
  • It allows us to better target therapies for these diseases. (medscape.com)
  • As we divide diseases into smaller groups, it is easier to target therapies for specific conditions. (medscape.com)
  • Though the diseases are individually rare, together, the 7,000 known rare diseases affect approximately 30 million Americans. (fda.gov)
  • There are over 7,000 known rare diseases that affect approximately 400 million people worldwide. (pfizer.com)
  • Of the approximately 7,000 rare diseases, only about 500 have a specific code. (wikipedia.org)
  • Today, the U.S. Food and Drug Administration announced it has awarded 19 new grants and two new contracts totaling more than $38 million in funding over the next four years to support clinical trials, natural history studies and regulatory science tools related to rare diseases. (fda.gov)
  • The FDA received 33 clinical trial grant applications and awarded more than $25 million spread over the next four years to 11 clinical trials that support product development for rare disease treatments. (fda.gov)
  • In this on-demand webinar, Medpace experts share the operational and regulatory challenges associated with pediatric rare disease clinical trials. (medpace.com)
  • But there are now emerging clinical trials related to rare diseases, so there is much hope as compared to even just a few years ago. (mcgill.ca)
  • Approximately 400 clinical trials in a rare disease condition are currently registered on ClinicalTrials.gov - on Rare Disease Day 2017, Outsourcing-Pharma.com examines the numbers. (outsourcing-pharma.com)
  • NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. (rarediseases.org)
  • Dercum's disease is an extremely rare disorder characterized by multiple, painful growths consisting of fatty tissue (lipomas). (howstuffworks.com)
  • Fahr's Disease is a rare degenerative neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) and associated cell loss in certain areas of the brain (e.g., basal ganglia). (howstuffworks.com)
  • 1 By contrast, a disorder or disease is considered rare in the United Kingdom if it affects less than 50,000 individuals. (pharmacytimes.com)
  • The draft seeks to create a comprehensive and sustainable health system for people afflicted with a rare disease-otherwise known as orphan disorder. (inquirer.net)
  • Wilson's disease is a genetic disorder whereby sufferers have too much copper in their systems. (bewellbuzz.com)
  • People with PKU, a rare genetic disorder, are fighting for access to medication. (thejournal.ie)
  • A rare disorder nearly took the life of a young mother earlier this month. (wxyz.com)
  • NOVATO, Calif.- Ultragenyx Pharmaceutical Inc. , a biopharmaceutical company focused on the development of novel products for rare and ultra-rare diseases, has reported positive interim data on the acute effects of the investigational treatment UX007 (triheptanoin) at the end of the initial 24-week treatment period of the Phase 2 study in long-chain fatty acid oxidation disorder (LC-FAOD) patients. (drugdiscoverynews.com)
  • Genetic counselling fills an important need - providing answers and personalized support to people living with or concerned about the risk of a rare or undiagnosed disorder. (mcgill.ca)
  • Ashlyn is among a tiny number of people in the world known to have congenital insensitivity to pain with anhidrosis, or CIPA -- a rare genetic disorder that makes her unable to feel pain. (allnurses.com)
  • Phenylketonuria (the metabolic disorder that we screen newborns for) is also considered a rare disease. (medscape.com)
  • Rett syndrome is a rare genetic disorder in which a child's early growth and development regresses. (medlineplus.gov)
  • When a diagnosis has not been established, or when a code does not exist for a specific rare disease, general coding guidelines indicate that it is acceptable to use codes that describe signs and symptoms. (wikipedia.org)
  • This Human Phenotype Ontology database contains the symptoms of all known genetic diseases, and stores them in digital format. (charite.de)
  • Within the field of genetics, Charité's main areas of research focus include the identification and analysis of disease mechanisms, biocomputational analysis, the analysis and linking of clinical symptoms (phenotype) with genetic variants, as well as the development of genetic testing sys-tems and their implementation in clinical practice. (charite.de)
  • The 2021 study also noted that from the first appearance of symptoms it can take more than six years and as many as 17 clinical encounters before a person receives a definitive rare disease diagnosis. (businesswire.com)
  • This forms part of an iterative process in which a medic enter symptoms into a search engine, examines lists of potential diseases and then looks for further evidence of symptoms in the patient. (technologyreview.com)
  • Although rare diseases vary widely in their clinical symptoms and disease progression, most have a strong genetic basis in common. (pharmacytimes.com)
  • Although there are different ways for an extremely rare disease to develop, it's common that they have no treatment, and people have to manage the symptoms as best they can. (bewellbuzz.com)
  • Treating underlying cancer can reduce symptoms, but it can develop into carcinoid heart disease, which thickens heart valves and creates leaks that can be fatal. (bewellbuzz.com)
  • The majority of patients enrolled presented with musculoskeletal disease compared to a limited number who presented with liver and cardiac symptoms. (drugdiscoverynews.com)
  • Also, unfortunately, people living with a rare disease may need to be their own advocates when interacting with the public health care system and must be the "teacher" to other healthcare professionals who may be unaware of their specific rare disease, the symptoms, the risks or even what type of information to provide. (mcgill.ca)
  • It can help the physician and patient understand what symptoms belong to the rare disease and what symptoms are common in the general population. (mcgill.ca)
  • Face2Gene uses facial analysis, deep learning, and artificial intelligence to evaluate symptoms of patients with rare genetic diseases and suggest possible diagnoses based on a database of more than 10,000 rare disease syndromes. (genomeweb.com)
  • In endemic areas, the disease should be ruled out in all patients who develop unexplained neurological symptoms. (who.int)
  • Ebola diseases symptoms can be sudden. (who.int)
  • A person infected with an Ebolavirus cannot spread the disease until they develop symptoms. (who.int)
  • Prion Disease Associated With Diarrhea and Autonomic Neuropathy Prion disease associated with diarrhea and autonomic neuropathy describes an inherited prion disease that manifests with peripheral rather than central nervous system symptoms. (msdmanuals.com)
  • In acquired prion diseases, symptoms and signs develop months to years after the initial exposure to PrP Sc . (msdmanuals.com)
  • The current estimates from the National Institutes of Health and others are that there are more than 7000 rare diseases that affect 8%-10% of the population. (medscape.com)
  • A mutation in a single gene can cause a devastating genetic disease, such as cystic fibrosis, and collectively mutations cause from 7,000 to 10,000 different rare diseases. (jax.org)
  • Over time, they become prone to infections and are more likely than other children to develop autoimmune diseases and cancers. (sciencedaily.com)
  • Finding out more about these differences, could give clues as what causes these autoimmune diseases and help develop treatments. (medicalnewstoday.com)
  • The term 'leukoencephalopathy' means that the disease affects mainly the white matter of the brain or myelin, although there are some rare cases in which the gray matter neurons is also involved. (howstuffworks.com)
  • As defined by the Institute of Human Genetics of the National Institutes of Health, University of the Philippines Manila, a rare disease is defined as one that affects one in 20,000 of the general population. (inquirer.net)
  • The disease typically affects the renal and extracranial carotid arteries, but it has also been noted in most medium-sized arteries throughout the body, most commonly the mesenteric, external iliac, and brachial arteries. (medscape.com)
  • Ebola diseases (EBOD) are rare, but severe and often fatal viral diseases that affects humans and other primates. (who.int)
  • Helen Devine - Targeting Bile Acid Receptors in Motor Neuron Disease: Pre-clinical Modelling to Assess the Potential of Repurposing FXR and TGR5 Receptor Agonists as Therapeutic Agents in MND. (ncl.ac.uk)
  • Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a mutation in a motor neuron gene. (jax.org)
  • Their previous work suggested that cellular pathways involved in processing fat molecules may be a common factor underlying HSP and related motor neuron diseases. (the-scientist.com)
  • The goal is to address barriers preventing individuals living with rare diseases from obtaining proper treatment, resources and care for their condition. (utah.gov)
  • I believe delivering transformational medical innovation for individuals living with rare diseases requires the different local health system players to work even more closely together to create the types of remarkable outcomes patients expect and deserve. (janssen.com)
  • and the International Conference on Rare Diseases & Orphan Drugs ( ICORD ), which promotes rare disease policy in new regions of the world. (eurordis.org)
  • At a two-day conference on rare diseases that concluded on Dec. 19, Li Tao, deputy head of the National Healthcare Security Administration, said that seven rare-disease medicines were included in the country's medicare reimbursement list in 2021, with an average price reduction of 65 percent. (news.cn)
  • The Rare Neurodegenerative Disease Grant Program was established specifically for ALS and neurodegenerative conditions upon enactment of the ACT for ALS in December 2021 . (fda.gov)
  • The ACT requires that the FDA award grants and contracts to public and private entities to cover costs of research on, and development of interventions intended to prevent, diagnose, mitigate, treat, or cure ALS and other rare neurodegenerative diseases in adults and children. (fda.gov)
  • Three of the natural history studies awarded by the FDA are related to rare neurodegenerative diseases including for ALS, Myotonic Dystrophy Type 1, and Ataxia-Telangiectasia. (fda.gov)
  • Additionally, the FDA funded two contracts related to rare neurodegenerative diseases. (fda.gov)
  • Visit Rare Neurodegenerative Disease Grant Program for more information about the contracts. (fda.gov)
  • My role at The Neuro is genetic counselling for many of the rare forms of neurodegenerative diseases, such as ALS, epilepsy, dementia and stroke. (mcgill.ca)
  • Seven of the awards fund studies of rare cancers, mostly targeting cancers of the brain and peripheral nerves. (fda.gov)
  • Hepatitis B vaccine prevents hepatitis B-related cancers and other diseases. (who.int)
  • Many cancers are developing into rare diseases. (medscape.com)
  • For example, prostate cancer, which is one of the most common cancers, is subdividing into smaller groups as we apply DNA technology and better biomarkers to the disease. (medscape.com)
  • Several companies are developing platforms that harness AI as a means to identify genetic variants at the roots of rare diseases, while medical researchers and practitioners are using these platforms or developing their own. (forbes.com)
  • Jacob has a rare disease discovered by an online gene matchmaker service that researchers are developing. (cnn.com)
  • The 'Human Phenotype Ontology (HPO)' (used by the PhenIX computer program for the diagnosis of rare genetic diseases) was first developed in collaboration with the MPI and is now used by researchers all over the world. (charite.de)
  • This method of using mice as models for the study of rare human genetic dis-orders is often the only way for researchers to find out more about the disease and develop treat-ments. (charite.de)
  • That community - which includes academic researchers, disease-based organizations and pharmaceutical and biotech companies - is involved with every aspect of the center's work, from proposing which diseases to focus on to developing new treatments. (jax.org)
  • Researchers have discovered a new underlying cause of Wiskott-Aldrich syndrome, a rare genetic disease that leads to bleeding and immune deficiencies in babies. (sciencedaily.com)
  • Researchers report a significant increase in the United States in the prevalence of metabolic associated fatty liver disease. (medicalnewstoday.com)
  • Our REDRESS partnership represents a unique opportunity to foster the development of long-term relationships between British and Irish social science researchers with a focus on rare diseases. (qub.ac.uk)
  • Please provide details (email or place of work) of any other health professionals/researchers you know that have an area of special interest in a rare and/or genetic disease and we will send them this survey. (surveymonkey.com)
  • Are you prepared to be contacted by health professionals/researchers with treatment/diagnostic or research queries on your rare and/or genetic disease are of interest? (surveymonkey.com)
  • Last month, an international team including NIAID researchers reported progress in developing gene therapy to treat X-linked chronic granulomatous disease , a PIDD characterized by frequent and sometimes life-threatening bacterial and fungal infections. (nih.gov)
  • Rare disease researchers have always collaborated internationally to ensure research excellence and the advancement of science, but in a fragmented way. (eurordis.org)
  • A total of 600,000 rare disease patients have been registered in two national databases, providing researchers and clinicians with urgently needed epidemiological data, Zhang noted. (news.cn)
  • The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases. (bvs.br)
  • In recognition of Rare Disease Day 2017, we republish, with permission, a modified extract from our recent commentary in Genetics in Medicine. (cdc.gov)
  • A good place to start is to contact an advocacy organization for the rare disease. (wikipedia.org)
  • According to the Global Genes organization, eight out of ten rare diseases are caused by a faulty gene, yet it takes an average of 4.8 years to arrive at an accurate diagnosis. (forbes.com)
  • The annual global event is organized by the European Organization for Rare Diseases (EURODIS) to raise awareness and bring widespread recognition of rare diseases as a worldwide public health concern. (meadjohnson.com)
  • Among other advances, NIAID-supported scientists developed an experimental model to study prion diseases and uncovered additional evidence for an association between acute flaccid myelitis and infection with non-polio enteroviruses . (nih.gov)
  • Learn more about Prion Diseases , a related group of rare, fatal brain diseases that affect animals and humans. (nih.gov)
  • Prion diseases result from misfolding of a normal cell-surface brain protein called cellular prion protein (PrP C ), whose exact function is unknown. (msdmanuals.com)
  • Prion diseases should be considered in all patients with dementia, especially if it progresses rapidly. (msdmanuals.com)
  • Sporadic prion diseases are the most common, with a worldwide annual incidence of about 1 to 2/1 million people. (msdmanuals.com)
  • Familial prion diseases are caused by defects in the PrP gene ( PRNP ), which is contained in the short arm of chromosome 20. (msdmanuals.com)
  • 400 million people globally suffer from a rare disease. (forbes.com)
  • It remains inactive in healthy individuals and causes disease only when the immune system has been severely weakened, such as in people with HIV/AIDS, or hematological malignancies, and in organ transplant recipients who receive immuno- suppressant medications to avoid rejection of the transplanted organ. (howstuffworks.com)
  • Collectively, people living with a rare disease represent one of the largest underserved patient communities in the world, with only 5% of known rare diseases having one or more approved treatments. (pfizer.com)
  • At Pfizer, we believe that people living with a rare disease, along with the untold number of family members and caregivers who support them, deserve more. (pfizer.com)
  • Raising awareness and generating change for the 300 million people worldwide living with a rare disease, their families and carers. (rarediseaseday.org)
  • On February 29, millions of people around the world will come together to observe Rare Disease Day. (meadjohnson.com)
  • There are nearly 30 million people living with rare diseases in the United States, another 30 million in Europe and millions more in all parts of the world. (meadjohnson.com)
  • In the United States, it is estimated that 25 to 30 million people are afflicted with a rare disease, or approximately 8% to 10% of the population. (pharmacytimes.com)
  • Worldwide, it is estimated that 350 million people suffer from a rare disease. (pharmacytimes.com)
  • There are multiple unmet needs facing rare disease communities, with recent reports from Northern Ireland (NI) and the Republic of Ireland (RoI) stressing urgent research priorities to help people living and working with rare diseases. (qub.ac.uk)
  • Expertise in psychosocial implications of disease and how best to support people affected, with a focus on developing supportive care networks. (qub.ac.uk)
  • Illness and diseases are common in the US, but did you know there are some extremely rare diseases that only a few people develop? (bewellbuzz.com)
  • People with extremely rare diseases are often left facing an incurable disease simply because the funding is not in place to discover more about the condition and potential treatments. (bewellbuzz.com)
  • There are unmet requirements for elderly, frail people with multiple diseases, but many support services today focus on patients with rare or ultra-rare diseases. (visiongain.com)
  • People with this rare genetic condition need to maintain strict low-protein diets. (thejournal.ie)
  • Did you know that approximately 300 million people worldwide are living with one of the 6,000+ rare diseases, most of which have no or limited approved treatment options? (janssen.com)
  • Guillain-Barre is a rare syndrome that some people get after having some sort of infection, according to the Mayo Clinic. (wxyz.com)
  • More than 300 million people worldwide live with rare diseases, for which there are no preventative measures, no cures, and no effective treatments. (weforum.org)
  • Almost 30 million people in the United States-about 1 in 10 of the country's population-live with a rare disease. (nih.gov)
  • Each February, NIH observes Rare Disease Day to raise awareness about rare diseases, the people they affect, and scientific research. (nih.gov)
  • The new Blood and Immune Deficiency-Cellular Therapy Program at the NIH Clinical Center promises to foster further advances in gene therapy and other treatments for people with PIDDs and other rare blood and immune system diseases. (nih.gov)
  • It brings together pharmaceutical, biotech and service companies whose work has an impact on people living with a rare disease and that share a common interest in rare diseases and orphan medicines development. (eurordis.org)
  • In a world where more countries can provide better access to healthcare to at least part of their population, and where the Internet is changing how we access information and build communities, the serious situation that millions of people living with a rare disease find themselves in can be improved beyond OECD countries. (eurordis.org)
  • An international approach to research and health policy can make a major contribution to improving the lives of people living with a rare disease. (eurordis.org)
  • It's one of the commonest of the rare diseases, and there are up to 100,000 people in America alone who have the severe form and would benefit," says Professor Alton. (imperial.ac.uk)
  • How does genetic counselling benefit people living with rare diseases? (mcgill.ca)
  • The overall feeling of not being understood is a shared feeling that people with rare diseases do tend to express. (mcgill.ca)
  • Knowing that we are one of the few professions that can provide both the medical information and the psychosocial support for people living with rare diseases - that is what really motivates me. (mcgill.ca)
  • This is in direct contrast to the last several decades in which the development of medications for acute or chronic disease states, affecting millions of patients, was the primary target for the pharmaceutical industry. (pharmacytimes.com)
  • Because rare diseases are usually chronic and progressive and because science is advancing rapidly, we are racing the clock to secure medicine access for those living with such medical issues. (janssen.com)
  • The chronic degenerative condition related to Rare Diseases (DR) is permeated by complex social processes and access to health, whose understanding requires evaluation from the perspective of affected patients. (bvsalud.org)
  • Newser) - Celine Dion's rare neurological condition will keep her from touring even longer than expected. (newser.com)
  • The diagnosis of a rare neurological disease can have considerable impact on patients and their families. (mcgill.ca)
  • Most rare neurological diseases have underlying genetic causes. (mcgill.ca)
  • Due to the large number of rare diseases (more than 5,000) and low prevalence of each disease, resources that lead to cures can be difficult to find. (meadjohnson.com)
  • As there is no agreed-upon, worldwide threshold prevalence or incidence for what constitutes a rare disease, the definition often varies by country. (pharmacytimes.com)
  • Down syndrome is at the upper range of prevalence for a rare disease. (medscape.com)
  • Rare Diseases, Genomics and Public Health: An Expanding Intersection (February 17, 2016) Rare Disease Day is celebrated on the last day of February each year. (cdc.gov)
  • There are more than 7000 known rare diseases that affect a worldwide patient population that, if aggregated together, would be the third most populous country in the world. (pharmacytimes.com)
  • The Utah Rare Disease Advisory Council (RDAC) was formed under HB 106 during the 2020 legislative session of the Utah Legislature (Utah code 26-1-41). (utah.gov)
  • Unfortunately in 2020, there is no established rare disease research infrastructure across NI (UK) or RoI. (qub.ac.uk)
  • This RarE Disease Research Engaging Social Science (REDRESS) Partnership (tagged as #REDRESS_Rare), was developed in response to a network funding call from the ESRC - IRC in 2020. (qub.ac.uk)
  • During the 2018-2020 Ebola virus disease (EVD) outbreak caused by Zaire ebolavirus in the Democratic Republic of the Congo, the first-ever multi-drug randomized control trial was conducted to evaluate the effectiveness and safety of drugs used in the treatment of EVD patients under an ethical framework developed in consultation with experts in the field and the DRC. (who.int)
  • High levels of amino acids are dangerous, and this disease can be fatal. (bewellbuzz.com)
  • The baby was diagnosed with Denys-drash syndrome, a fatal disease with fewer than 500 cases reported worldwide. (news.cn)
  • On that day, millions of patients and their families around the world share their stories in order to raise awareness about rare diseases and their impact. (cdc.gov)
  • Please note that NORD provides this information for the benefit of the rare disease community. (rarediseases.org)
  • What Is the NORD Rare Disease Database? (rarediseases.org)
  • One of the first places many newly diagnosed rare disease patients and their families turn to is the NORD Rare Disease Database. (rarediseases.org)
  • Key message: Psychiatrist and Neurologist should remain vigilant regarding this uncommon presentation of this degenerative disease. (who.int)
  • Here are 20 of the rarest diseases in humans and their causes. (bewellbuzz.com)
  • The disease coordinate for H1N1 in humans is Influenza, Human. (bvsalud.org)
  • Gene therapy has long promised a solution for inherited diseases untreatable with conventional medicine. (imperial.ac.uk)
  • The untreatable disease also makes Ashlyn incapable of sensing extreme temperatures -- hot or cold -- disabling her body's ability to cool itself by sweating. (allnurses.com)
  • This close cooperation has been of particular benefit to patients with rare hereditary diseases, as any progress made is directly translated into clinical practice at Charité. (charite.de)
  • What makes hereditary diseases different from other diseases is that, when we do identify a gene mutation, it can impact other family members. (mcgill.ca)
  • In this post, we explore how new research on rare genetic diseases is contributing to our understanding of COVID-19 occurrence and outcomes and discuss potential clinical and public health implications. (cdc.gov)
  • Few public health research activities trigger stronger calls to public health action than research into the burden of disease. (cdc.gov)
  • Our current funding opportunities that are available to help progress research in Rare Disease at Newcastle University. (ncl.ac.uk)
  • Few research programs specializing in the disease, and little incentive for pharmaceutical companies to develop drugs for such a small pool of patients, mean that there may be few or no treatment options available. (jax.org)
  • The U.S. Food and Drug Administration today announced it has awarded six new research grants for natural history studies in rare diseases. (fda.gov)
  • The aim of the research is to inform medical product development by better understanding how specific rare diseases progress over time. (fda.gov)
  • New research from the US shows that regular consumption of coffee is linked to a reduced risk of a rare autoimmune liver disease called primary sclerosing cholangitis (PSC). (medicalnewstoday.com)
  • Although still a research project, Dragusin and co have made their rare disease search engine publicly available at www.findzebra.com . (technologyreview.com)
  • Medpace gathered experts in all areas of rare disease clinical research and created a three part webinar series. (medpace.com)
  • In our previous post, we discussed how patient-focused clinical trial design and collaborative approaches to site enrollment can accelerate rare disease clinical research. (medpace.com)
  • A pioneering drug for a rare kidney disease prevents organ failure and significantly improves the outcome for patients, new research has confirmed. (news-medical.net)
  • Building on the early success of our community focused RAinDRoP (RAre Disease Research Partnership, RoI) and RARDTAC (Raising Awareness of Rare Disease Throughout All Communities, NI) projects we have worked with colleagues across Ireland to establish this UK-Ireland RarE Disease Research Engaging Social Science (REDRESS) Partnership. (qub.ac.uk)
  • She has expertise in rare diseases, paediatrics, risk and quality, national online training program for special needs assistants, patient and public involvement, advisory board member of children's research network, and is chair of the Irish Rare Disease Research Partnership (RAINDROP project). (qub.ac.uk)
  • Also, the draft provides a system to coordinate a sustainable research and development initiatives and resource generation efforts among relevant government agencies and private sector toward improving the quality of life of patients with rare diseases and their families. (inquirer.net)
  • The Act was invoked to promote research into these unusual and often life-limiting diseases. (bewellbuzz.com)
  • More than 500 collaborative research works on rare diseases are underway in the country's national key labs and translational medicine centers. (news.cn)
  • Speaking at the conference, Zhang Shuyang, president of Peking Union Medical Hospital, said China's clinical research on rare diseases has been updated into a collaborative innovation system, achieving multiple breakthroughs in genetic mechanism, diagnostic markers, clinical typing and pathogenesis. (news.cn)
  • Under the terms of the deal, GGC will use Face2Gene to analyze nearly 80,000 undiagnosed cases with the goal of generating actionable answers for these patients, identifying new syndrome-related clinical phenotypes, and making rare disease discoveries that can advance overall research. (genomeweb.com)
  • Tiina K. Urv, Ph.D., leads the Rare Diseases Clinical Research Network, part of NIH's Office of Rare Diseases Research. (medlineplus.gov)
  • What is it like to research a rare disease? (medlineplus.gov)
  • Andrea L. Gropman, M.D., studies rare diseases with support from NIH and the Rare Diseases Clinical Research Network. (medlineplus.gov)
  • Background: Registries are important in rare disease research. (lu.se)
  • With the recommendations resulting from this study, we call for rare disease patient registries to take example and aim to continuously improve their data quality to enhance the small, but impactful, field of rare disease research. (lu.se)
  • Under an agreement with the NIH Office of Rare Diseases and Research (ORDR), the list of rare disease terms maintained by that office is being merged into the MeSH vocabulary. (bvsalud.org)
  • Our current portfolio spans four therapeutic areas, including 1) rare hematology, 2) rare endocrine/metabolic, 3) rare neurology and 4) rare cardiology. (pfizer.com)
  • Metabolic-associated fatty liver disease (MAFLD) is on the rise. (medicalnewstoday.com)
  • Newser) - If you're not familiar with rare metabolic diseases, you're not alone, and that fact is what drove one family's decision to share their story: of one tragedy, and one tragedy narrowly averted. (newser.com)
  • NCATS' support was made possible through its Therapeutics for Rare and Neglected Diseases (TRND) program. (fda.gov)
  • Because the natural history of many rare diseases remains relatively unknown, efficiently developing diagnostics and therapeutics for these patients poses big challenges. (fda.gov)
  • Emerging new therapeutics in rare diseases often present unique challenges to agreeing on evidence of treatment success. (janssen.com)
  • The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. (drugdiscoverynews.com)
  • Discussion: A substantial number of patients with Fahr's disease present with behavioural disturbances. (who.int)
  • Usually late onset Fahr's disease with behavioural disturbances is accompanied by cognitive and motor abnormalities. (who.int)
  • Conclusion: Psychosis may be the sole presentation in a case of late onset Fahr's disease. (who.int)
  • Magdaraong said: "They are called orphan diseases because their victims suffer from social abandonment due to the fact that so few medical professionals and even fewer individuals know about its existence, how are they identified, or how could they be treated or at least managed. (inquirer.net)
  • Safe, effective, quality-assured and affordable vaccines, medicines, medical devices, in vitro diagnostics and assistive products are necessary for the prevention, diagnosis and treatment of cancer and other noncommunicable diseases such as diabetes, and rare and orphan diseases, as well as the monitoring, rehabilitation and palliative care of individuals with these conditions. (who.int)
  • Rare and orphan diseases affect a small number of patients and their management presents specific challenges, including the need for complex and specialized care. (who.int)
  • The results of this study demonstrate the urgent need for faster and improved diagnostic strategies to help decrease the financial and personal impact of rare diseases on families and the healthcare system," commented Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement at the EveryLife Foundation. (businesswire.com)
  • Researching and developing new treatments for rare diseases is time consuming, complex, and often expensive. (medlineplus.gov)
  • Neither is this situation helped by the fact that 95% of rare diseases lack an FDA-approved treatment. (forbes.com)
  • However, parents may want to know whether their child is at high risk of a rare disease even if a treatment doesn't exist. (cdc.gov)
  • The natural history of a disease is the course a disease takes from its onset, through the presymptomatic and clinical stages, to a final outcome in the absence of treatment. (fda.gov)
  • For more than thirty years, we have provided critical treatment options for patients with rare diseases. (pfizer.com)
  • Identifying best practices to improve care and treatment for individuals with a rare disease. (utah.gov)
  • One of the greatest obstacles facing individuals who suffer from rare diseases is the limited treatment options currently available," said FDA Commissioner Robert M. Califf, M.D. "Since the beginning of the Orphan Products Grants Program in 1983, it has facilitated the approval of more than 80 rare disease products. (fda.gov)
  • Since the passage of the Orphan Drug Act in 1983, there has been significant acceleration in the number of pharmaceutical compounds identified, developed, and approved for the treatment of rare diseases, particularly within the past decade. (pharmacytimes.com)
  • This business model helps explain how the company can be committed to bringing to market novel products for the treatment of rare and ultra-rare diseases, with a focus on serious, debilitating genetic diseases. (drugdiscoverynews.com)
  • The patients were then followed to evaluate the effects of UX007 treatment over 24 weeks on several endpoints, including cycle ergometer performance, 12-minute walk test (12MWT), liver disease/hypoglycemia, cardiac disease and quality of life. (drugdiscoverynews.com)
  • A new gene therapy could revolutionize the treatment of diseases like sickle cell anaemia. (weforum.org)
  • China is also striving to improve the diagnosis and treatment of rare diseases. (news.cn)
  • One lesson we have learned from the rare disease world is that each patient benefits from having an individualized treatment plan. (medscape.com)
  • We aspire to be the world's leading innovator in rare disease by pioneering science that has a profound impact on the lives of underserved patient populations. (pfizer.com)
  • Produced by the National Library of Medicine, the world's largest medical library, it brings you information about diseases, conditions, and wellness issues in language you can understand. (medlineplus.gov)
  • In ICD-11 the search and coding of any disease, including rare ones is done via the ICD-11 website. (wikipedia.org)
  • Several online resources can help locate ICD codes: WHO ICD-11 release version - A searchable online version of ICD-11 that allows users to search by hierarchy or by entering the disease name. (wikipedia.org)
  • A search can be done on the Genetic and Rare Diseases website for a list of disease advocacy organizations. (wikipedia.org)
  • These guys have set up a bespoke search engine dedicated to the diagnosis of rare diseases called FindZebra , a name based on the common medical slang for a rare disease. (technologyreview.com)
  • We are pleased that we can collaborate with the FDA to fund two natural history studies this year that will help NCATS develop novel treatments for patients who suffer from these devastating diseases. (fda.gov)
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. (wikipedia.org)
  • One potential application of these studies is the opportunity to eventually use natural history models to augment the need for placebo arms in studies of drugs that target very rare disease, where trial recruitment can be challenging. (fda.gov)
  • But, within the past decade, the accelerated application and approval of drugs designated for orphan status to treat rare diseases in very limited numbers of patient have become increasing concerns for all stakeholders in the healthcare marketplace. (pharmacytimes.com)
  • These disease states and drugs often have significant health, psychosocial, and economic impacts. (pharmacytimes.com)
  • More than 60 rare-disease drugs have been approved for marketing in China, according to official data. (news.cn)
  • Among the 81 overseas drugs with urgent clinical needs listed by NMPA, more than half are for rare diseases, and 26 of them have already been approved for use, said Chen Shifei, deputy head of NMPA. (news.cn)
  • To speed up drug approvals, the National Medical Products Administration (NMPA) is designating rare disease medicines with a priority review. (news.cn)
  • The country's national drug regulator has pledged to greenlight rare disease medicines -- with urgent clinical needs -- available in the overseas market but have not yet been marketed in China within 70 days. (news.cn)
  • Currently, more than 40 rare disease medicines are eligible for reimbursement, remarkably reducing the medical expenses for patients. (news.cn)
  • These grants and contracts, which were funded by the FDA's Orphan Products Grants Program , aim to advance the development of medical products to treat rare diseases. (fda.gov)
  • While referred to as "rare" due to the smaller size of individual patient populations, rare diseases are collectively common and their burden on society is staggering. (pfizer.com)
  • WASHINGTON--( BUSINESS WIRE )--In one of the first studies of healthcare resource utilization and costs for patients with rare disease, the EveryLife Foundation for Rare Diseases reveals that timely diagnosis and screening can shorten and possibly eliminate the diagnostic odyssey while significantly reducing the cost impact of rare disease for individuals, families, and the healthcare system. (businesswire.com)
  • Medical costs for rare diseases are inevitable, but avoidable costs from delayed diagnosis not only place financial strain on individuals and families but also divert crucial healthcare funds. (businesswire.com)
  • The development and implementation of a rare disease management program by healthcare providers and payors could greatly assist in improving the clinical, psycho-social and economic impacts for this patient population. (pharmacytimes.com)
  • CHENGDU, Dec. 21 (Xinhua) -- Two-and-half-year-old Xuanxuan survived a rare kidney disease in early December, thanks to fast-track approval of the transplant. (news.cn)
  • This is part of China's intensified efforts to rescue about 20 million patients with rare diseases in the country. (news.cn)
  • NEW YORK (GenomeWeb) - Greenwood Genetic Center announced today that it has signed an agreement to use FDNA's Face2Gene next-generation phenotyping technology in order to gain insights into thousands of undiagnosed patients with rare diseases. (genomeweb.com)
  • I hope this information is helpful to you when you start thinking about your patients, but also when you start hearing about rare diseases and the advances that are taking place in the field. (medscape.com)
  • Recent advances in NGS tools and techniques have led to accurate and timely diagnosis of a large proportion of genetic diseases by finding sequence variations in clinical samples. (bvsalud.org)