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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 …
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 … Institute (NHLBI) Trans-omics for Precision Medicine program . The centers also receive co-funding from NHLBI. We …
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 …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
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
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 …