Search Results
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.
… 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 …
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 … Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl. …
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. … is a working group coordinator for the NIH Common Fund's Undiagnosed Diseases Network (UDN), established in 2014. The …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… a full-time position as a pediatric neurologist at the NIH Undiagnosed Disease Program (UDP) and the GM1 gene therapy … disabilities, from common conditions like ADHD to rare diseases like GM1 and the variety of conditions seen in the … P, Murphy J, Wolfe L, Estwick T, Johnston JM, Yang J; Undiagnosed Diseases Network; Acosta MT , Lee PR, Pierson …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… only genes suspected to be linked to human genetic diseases will be knocked out, in collaboration with the Undiagnosed Diseases Network. All the known genes linked to human deafness will … Shawn Burgess, gene function, zebrafish, genetic mutation, Undiagnosed Diseases Network, animal models of disease …