Search Results
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… to identify which sequence variants are relevant to disease. As a result, information on only a few genomic … practice. One factor that limits the clinical use of variant information is the lack of openly accessible … genes and variants. Experts in the areas of cardiovascular disease, pharmacogenomics, hereditary (germline) cancer, …
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.
… interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs). NIH … process: RFA-HG-22-008 : Multi-Omics for Health and Disease — Disease Study Sites (U01 Clinical Trial Not Allowed) …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… insight into the biological mechanisms of human health and disease. The researchers used whole genome sequencing and … these incredible species! #DogGenome #Genome #Health #Disease #CitizenScience pic.twitter.com/RTeXBwNukW — National …
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.
… have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published in … has characteristics typical of an autoinflammatory disease, where the immune system appears to be activated … same place,” said Kastner, who led the NHGRI team. “This discovery underscores the tremendous power of combining …
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
… feats in history. The project was a voyage of biological discovery led by an international group of researchers … Project … The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking … … The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the … as well as the lysosomal storage disorder Niemann-Pick disease, Type C. By integration of basic science research … approach has been highly successful and has led to the discovery of critical genetic components needed for normal …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… implications of COVID19 in individuals with mitochondrial disease or their family members is unknown. Individuals with mitochondrial disease may be particularly at risk for decline associated … like genetic differences in individuals with mitochondrial disease who may be infected with COVID-19. Our goal is to …
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.
… of Health is establishing the Multi-Omics for Health and Disease Consortium , with approximately $11 million awarded … and cellular processes involved in human health and disease, including untangling genetic and non-genetic factors … providing important clues for treatment design and drug-discovery efforts. This new consortium is an important step …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … to help scientists understand the basic biology underlying disease, as well as to discover new possible therapeutic … for gene therapy has grown tremendously since the discovery of CRISPR, the vast majority of work undertaken by …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane … alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and …