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Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … Huntington's disease (HD) is an inherited neurological illness causing … the abnormal gene that will cause them to develop the disease. There is no cure for this fatal disease. A single abnormal gene produces HD. In 1993, …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … Huntington’s disease is a rare inherited disorder associated with the progressive loss …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … fetus early in pregnancy. However, a baby with Tay-Sachs disease appears normal until about six months of age when its … five. A much rarer form of Tay-Sachs, Late-Onset Tay-Sachs disease, affects adults and causes neurological and …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… for disabling pansclerotic morphea, a severe inflammatory disease.  … colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as … a predoctoral fellow within NHGRI's Inflammatory Disease Section, a medical student at the University of South …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the … United States. Approximately 100,000 Americans have the disease. In the United States, sickle cell disease is most prevalent among African Americans. About one …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix … from Dan Kastner, M.D. Ph.D.'s group in the Inflammatory Disease Section of the Division of Intramural Research …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… for demystifying undiagnosed illnesses - particularly rare childhood diseases - is moving from research … These variants may point to the cause of the patient's disease. In an NHGRI-funded study published in the NEJM last … for whom the technology is most promising are those with rare disorders that seem to be the result of variants in a …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … "Deciding which genomic variants are important players in disease is probably the most difficult challenge that we face … are millions of variants in the human genome, and most are rare and do not have a big impact on health. This will likely …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… There are an estimated 7,300 such conditions, which are rare and usually inherited, and typically caused by a … the genomic causes for only about half. Individually, a rare disease may affect only a handful of families. Collectively, … Genomics uncovering the genomic basis of hundreds of rare conditions …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… to investigate the pathophysiology of these new and rare diseases. In 2008, the NIH Undiagnosed Diseases Program … (NHGRI), the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) and the NIH Clinical Center to … that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic …