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News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a … much larger and involves 7 clinical sites, two sequencing centers, a metabolomics core, a model organisms core, 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 … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … the disease has not been extensively described. As for the childhood form of Tay-Sachs, there is no cure. … results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of …
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. … A baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … metabolic pathway that plays a major role in several common diseases. Together, their findings may provide new … influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies.  …
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 …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… of UDN are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed by a large community of … diagnosis is feasible to implement in academic medical centers around the United States. In 2018, new awards …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… scientific leadership and shape direction of computational genomics in institute’s Intramural Research Program. … Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s … selects Adam Phillippy as first director of new Center for Genomics and Data Science Research …
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 …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… As is likely the case for many of your organizations, NHGRI and NIH are starting to … be a complex and lengthy process! As has been the case for the past few months, NHGRI staff will continue pursuing our genomics-driven mission, whether working remotely from home …
Staff
​Lin Lei is a biochemist at NHGRI's Center for Research on Genomics and Global Health. ​
… Lin Lei is a Biochemist at the Center for Research on Genomics and Global Health (CRGGH), National Human Genome … research using Agilent and Affymetrix microarrays for both clients and the company’s in-house projects. … Lin Lei, Center for Research on Genomics and Global Health, zebrafish, …