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Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease.
… to find genetic variations associated with a particular disease. … to find genetic variations associated with a particular disease. Once new genetic associations are identified, … develop better strategies to detect, treat and prevent the disease. Such studies are particularly useful in finding …
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, …
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 …
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 … discover the alterations in these pathways that lead to disease and develop paradigms for therapeutic interventions. …
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) … Pre-Application Webinar: Multi-Omics for Health and Disease Consortium …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… Individuals with mitochondrial disease may be particularly at risk for decline associated … and immune differences in individuals with mitochondrial disease when they have an infection. Our goal is to … the severity of infection in people with mitochondrial disease. …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… 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
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 …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… genomic causes for only about half. Individually, a rare disease may affect only a handful of families. Collectively, … the program's progress and the breadth of Mendelian gene discovery to date. The authors also ruminated on the lessons … more separate conditions. "Sometimes a gene mutation or a variant causes one disease, whereas a different mutation in …
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 … 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 …