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National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953.
… the completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. … National DNA … completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. The National Human … the completion of the human genome project in 2003 and the discovery of the double helix in 1953. DNA Day’s mission …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… NHGRI researchers identified a person with a genomic variant associated with a known metabolic disorder. Further … researchers and their collaborators found that a genomic variant was associated with immune dysfunction at the … and the National Institute of Allergy and Infectious Disease (NIAID) Centralized Sequencing Protocol, which …
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
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 …
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 …