Search Results
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… of helping everyone else affected by CFZS and similar diseases in the future," said Mr. Hanson. "We've come a long …
Event
Workshop highlighting accomplishments of eMERGE network and and identifying gaps, challenges and future opportunities in genomic medicine research.
…  The Electronic Medical Records and Genomics (eMERGE) network conducts genomic discovery and clinical … Workshop highlighting accomplishments of eMERGE network and and identifying gaps, challenges and future … Workshop highlighting accomplishments of eMERGE network and and identifying gaps, challenges and future …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.
Leadership Initiatives
The Genomics and Health Disparities Interest Group provides a forum to connect individuals from different scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide opportunities for professional development, networking and community engagement.Â
News Release
Investigators with The Cancer Genome Atlas Research Network have identified new potential therapeutic targets for a major form of bladder cancer.
… Investigators with The Cancer Genome Atlas (TCGA) Research Network have identified new potential therapeutic targets for … parts of the National Institutes of Health. "TCGA Research Network scientists continue to unravel the genomic … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… and Health in Africa (H3Africa) Kidney Disease Research Network. Previous research established that genomic variants … National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and co-author of the study. “Overall, we …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… His primary areas of interest include the development and diseases of melanocytes, the cells responsible for … research interest are the genetics of pigmentation and its diseases and the lysosomal storage disease Niemann-Pick … with an emphasis on understanding and treating human diseases, Dr. Pavan's work is focused on transformative …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… Researchers from The Cancer Genome Atlas (TCGA) Research Network have identified novel mutations in a well-known … addition to the two lung cancer studies, the TCGA Research Network has generated data and published analyses on a number … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult … Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot … Alliance The Access To Credible Genetics (ATCG) Resource Network has developed the Quality Assessment Toolbox to help …