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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… are susceptible to various diseases. … Powerful Clues for Disease Susceptibility While most differences in peoples' … to susceptibilities to cancer, obesity, diabetes, heart disease and other disorders. Understanding how genomic … world. The catalog more than doubles the number of known variant sites in the human genome, and can now be used in a …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… strokes, beginning early in childhood. The team's discovery coincides with findings by an Israeli research … but to fundamental new insights into blood vessel disease. In their study, which appears in the Feb. 19, 2014, … sequence of a third patient identified another harmful variant of CECR1 in addition to a small genomic deletion that …
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.
… misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five … patient observations I made early in my career have led to discovery of these genomic mutations," said Dr. Carey, …
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 …
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 …
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 …
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 …