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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
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For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for informational purposes only and … is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA … … Genetic Disorders … A list of genetic, orphan and rare diseases under investigation by researchers at or …
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… Progeria … Progeria is a rare disease characterized by accelerated aging. … Birth Defect, … Nuclear Membrane, Nucleus, Protein … Progeria is a rare disease characterized by accelerated aging. The classic …
Event
NHGRI will host a two-day symposium, on December 2-3, 2021, examining the history of eugenics and scientific racism and their complex legacies in the modern health sciences.
…  All slides are in PDF format. Day One: December 2, 2021 Time Topic/Speaker 10:00 - 10:15 … 3:20 - 3:30 p.m. Closing Chris Donohue (NHGRI)  Day Two: December 3, 2021 Time Topic/Speaker 10:00 - 10:15 … misconceptions continue to persist, resulting in modern day discrimination and bias? We look to the history of …
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 … disturbance and cognitive decline. … 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 …
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, …
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.  … Researchers at the National Institutes of Health … colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as … leading to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. …
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 …
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 … progressive destruction of the nervous system. … 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 …
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 … Genes, Autosomal Dominant … Huntington’s disease is a rare inherited disorder associated with the progressive loss …
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 …