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News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… Network will analyze and improve how genomic information is … The new Genomics-enabled Learning Health System (gLHS) Network aims to identify and advance approaches for … These could include implementing testing for hereditary diseases or using genomic information to select which …
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 …
News Release
Stomach cancers fall into four distinct molecular subtypes researchers with The Cancer Genome Atlas Network have found.
… subtypes researchers with The Cancer Genome Atlas (TCGA) Network have found. In the study, published online July 23, … genomes of more than 30 types of cancer. The TCGA Research Network has generated data and published analyses on a number … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
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.
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
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
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 …
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 …
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, …
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 …