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Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… M.D. … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the … Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease . N Engl J Med . 2020 Dec …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… 2020' calendar . All the best, … A summary of NHGRI's first strategic planning Town Hall, held via videocast in … to direct the program today. With the goal of improving disease management for individual patients and advancing … basic researchers to identify the underlying mechanisms of disease. Training clinicians in the use of contemporary …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… said Dr. James M. Anderson, M.D., Ph.D., director of NIH's Division of Program Coordination, Planning, and Strategic … in the National Human Genome Research Institute's Division of Genomic Medicine. Five new clinical sites will … to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… New disease could provide insights into how the cell’s recycling system contributes to a healthy brain. … … in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an Italian breed known …
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.
… Jeannine Mjoseth … For many years, Tonya and Cody Hanson's parents didn't know what caused their children to have weak … 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 …
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 … ruled out, they sought answers in the genome, a person’s complete set of DNA. Kastner and his team sequenced gene … mostly normal but had heightened responses to a variety of inflammatory stimuli, which the researchers think may suggest …
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 …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… Dr. William Pavan received his B.S. in animal science from the University of Massachusetts, … and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the … FD, Pavan WJ. A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage …