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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 …
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 … Institute (NHLBI) Trans-omics for Precision Medicine program . The centers also receive co-funding from NHLBI. We …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… (GWAS) to find regions of the genome associated with diseases and traits. In GWAS, the genomes of thousands of … involved in raising the risk," said Lisa Brooks, Ph.D., program director of the NHGRI Genetic Variation Program. "We … Ph.D. To understand the DNA drivers of common human diseases (using immune diseases as test cases), the …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… of the 2018 Samuel J. Heyman Service to America Medals program, known as the "Sammies." Each year, the Sammies pay … causes of multiple rare and debilitating autoinflammatory diseases and identifying and treating previously undiagnosed illnesses, efforts that have alleviated the …
Research Funding
A list of scientific program analysts who carry out scientific analyses and project management duties in support of program directors in the NHGRI Extramural Research Program.
… Scientific program analysts support the genomics research programs and … analyses and project management duties in support of program directors in the NHGRI Extramural Research Program (ERP), which awards grants to the academic and …
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 … …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… has given dozens of lectures about helping patients with undiagnosed diseases, work he began with the Undiagnosed Diseases Program in 2008. … But when he gave the honorary Samuel …