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- Ethical, Legal and Social Implications (ELSI) Research Program1
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- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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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.
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
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 … …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… (NHGRI). In 2020, he joined as a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl. Since 2021, Dr. … in the alkaptonuria study. He is also involved with the Undiagnosed Diseases Program where he evaluates patients with …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… with movement disorders, atypical neurodegeneration, and undiagnosed neurological disorders. … Since 2009, Dr. Toro has served as the primary neurologist for the NIH Undiagnosed Diseases Program (UDP) and has contributed to the success of …