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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 … Issue 4, 198-208, December 2017. … A Puzzling Link Between Diseases … Related Content … Mouse model for rare genetic …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… could be widely available to treat people with these diseases. However, there's a long distance between … understand the connection between Gaucher and Parkinson's diseases, NHGRI researchers used a labor-intensive technology … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for … genomic architecture underlying common, complex inherited diseases. Understand how best to design rare variant studies … research community. The CCDGs study cardiovascular diseases (early-onset cardiovascular disease, atrial …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… the genomic causes of multiple rare and debilitating autoinflammatory diseases and identifying and treating previously undiagnosed … Heyman Service to America Medals program. ​ … Dan Kastner, autoinflammatory diseases, undiagnosed diseases … Daniel …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social … … Clinical and research experts from the Undiagnosed Diseases Network (UDN) have joined forces to solve the most … , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are correlated … Institute of Arthritis and Musculoskeletal and Skin Diseases Last Updated: February 7, 2017 … Novel Changes … …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.