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Mitochondrial DNA is the small circular chromosome found inside mitochondria.
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a person’s genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… can be strongly influenced by genomics. In general, the metabolism of medications is controlled by many proteins, … the CYP2D6 gene encodes a protein that is involved in the metabolism of paroxetine (one common brand name of which is … reactions. Not only does the CYP2D6 gene affect the metabolism of paroxetine, its encoded protein is involved in …
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 …
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 …
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
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 …