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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 … CA on July 17, 2018. … The Genome: Unlocking Life's Code exhibition is currently touring North America. … to direct the program today. With the goal of improving disease management for individual patients and advancing …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… the risk of stroke in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2). … The disease results when a malfunctioning gene hampers a person's ability to produce the enzyme ADA2 (adenosine deaminase 2). …
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 … findings in npj Genomic Medicine . Scientists from NIH’s National Human Genome Research Institute (NHGRI) and …
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 … the phlegm that had to be suctioned from each child's lungs every 15 minutes for the first three years of their … misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya …
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) …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… (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. … Anyone with mitochondrial disease may be eligible …
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 … for the RIPK1 protein, which is involved in the body’s response to inflammation and programmed cell death. To make …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… revealed a significant genetic risk factor for kidney disease in people from Ghana and Nigeria. Their study … with APOL1 variants,” said Adebowale A. Adeyemo, M.B.B.S., who is a co-author of the study and is the deputy … Center for Research on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By …
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 … develop paradigms for therapeutic interventions. Dr. Pavan's group first discovered the neural crest cell transcription …