Search Results
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.
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, …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
… 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 …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… M.D., Ph.D., a pioneer in the field of autoinflammatory diseases, and his team discovered CRIA, which has symptoms … unexplained fever, swollen glands and other symptoms or diseases, and then at over a quarter million people from … are routinely used to treat autoinflammatory and chronic diseases such as rheumatoid arthritis, had little effect on …
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
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… to apply these standards in the context of particular diseases. ClinGen projects center on developing processes and …
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
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… drug targets. “Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop … sites, which will examine conditions such as fatty liver diseases, hepatocellular carcinoma, asthma, chronic kidney … risk and outcomes. Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop …
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 … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …