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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 …
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
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, …
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 …
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 …
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 …
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 … are millions of variants in the human genome, and most are rare and do not have a big impact on health. This will likely … often, clinicians and researchers studying a family with a rare disease encounter DNA mutations or variants that appear …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … 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 …
Event
NHGRI commemorates the life and legacy of genomics champion Representative Louise M. Slaughter (D-N.Y.), who passed away in March 2018, by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her honor.
… in the House of Representatives that created National DNA Day, which celebrates the completion of the Human Genome … away in March 2018 - by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her … … MD … 10 Center Drive … Louise M. Slaughter National DNA Day Lecture … NHGRI commemorates the life and legacy of …
News Release
Check out this video from NHGRI Director Eric Green talking about the importance of knowing your family health history.
… recognized Thanksgiving as National Family Health History Day. … A Message from the Director This year, the National … to identify the differences in genes that may increase disease susceptibility. Until then, family health history is … join NHGRI in celebrating Family Health History Day! … Check out this video from NHGRI Director Eric Green …