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Staff
Dr. Sharon Milgram is an adjunct investigator in the Genetics and Molecular Biology Branch at the National Human Genome Research Institute.
… by binding the N-terminal domain of RGS2 and the third intracellular loop of GPCRs. Nature Cell Biol , 7:405-411. …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Medical Students Critical Care Medicine Endocrinology and Metabolism Health Services Hematology Hepatology Infectious …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Dietary Determinates of Outcomes in Purine and Pyrimidine Metabolism Disorders P127 Where Epigenetics, Cancer and …
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
Clinical Research
Post COVID-19 Vaccine Registry for people with mitochondrial disease who have already received the COVID-19 vaccine.
… The NIH Metabolism, Infection and Immunity (MINI) Section invites …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… “Instead of looking at levels, we decided to measure metabolism itself.” Vast fluctuations in metabolic substances … of looking at levels, we decided to measure metabolism itself. One form of MMA is caused by mutations in … in the MMUT protein, which plays a pivotal part in metabolism. The protein is involved in the biological steps …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… docs to be researchers, too... The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism … Mutations Reduce Protective Immunity … Related …