Search Results
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
… $1000 Genome Program Genetic Association Information Network (GAIN) … Genomics into Practice (IGNITE) Knockout Mouse Program (KOMP) Large-Scale Genome Sequencing and Analysis … and Public Health (NSIGHT) The Cancer Genome Atlas (TCGA) Undiagnosed Diseases Network (UDN)  …
News Release
Researchers, clinicians, and computational biologists meet to consider future opportunities for NHGRI's Genome Sequencing Program.
… Research Institute's (NHGRI) flagship Genome Sequencing Program (GSP) at a July 28 - 29 meeting in Bethesda, Md. … community. Informed by the input received before the last program renewal (2012), the GSP was downsized by 20 percent … genes involved in Mendelian disorders (rare, inherited diseases typically due to a mutation in a single gene). New …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… a person has a higher or lower risk for getting particular diseases. Variants in single genes cause some traits and diseases, such as the ABO blood group and cystic fibrosis. … variants at nearby sites are on the same chromosome. The program also seeks to relate there genetic variants to …
About Genomics
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… scientific directors that led our Intramural Research Program (IRP): Jefferey Trent, Eric Green, Dan Kastner and … The History of Genomics Program maintains and provides access to the world’s largest … in biomedical research of the past century. The program produces and maintains a large oral history …
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 …
Professional Development Programs
GCTP faculty instructors.
… Counselor National Institute of Allergy and Infectious Diseases, NIH Jennifer Johnson, Ph.D. Staff Scientist Genetic … Klein, Ph.D. Associate Director, Behavioral Research Program Cancer Control and Population Sciences, National … GCTP Program Faculty Instructors …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… Human Genome Research Institute's Genome Sequencing Program Coordinating Center (GSPCC) was funded in 2016 to coordinate activities across the Genome Sequencing Program components. … Being a resource for logistics and communication among GSP program participants and collaborators (calls, meetings, …