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Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… connective tissue. Ongoing therapeutic trials address mitochondrial and oxidation-reduction disorders using an …
News Release
NHGRI's Dr. Elaine Ostrander and the Smithsonian's Dr. Dennis Stanford discover North America's oldest dog relics, important in canine genome research.
… can produce a nuclear DNA sequence or, at least, a mitochondrial DNA sequence from the samples. Nuclear DNA is … within the nucleus and is inherited from both parents. Mitochondrial DNA is passed down through the mother and …
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 …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… Genomics Proteomics Bioinformatics 5, 7–14 (2007).  Mitochondrial DNA . MedlinePlus Genetic s.  Richards, S. et … genetic variants that may be associated with medication metabolism . FDA (2018).  Can the results of …
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… Family Health History Tool Conference June 13-14, 2016 … Mitochondrial DNA mutation A1555G and aminoglycoside-induced …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… trials, conduct of clinical trials of a drug to combat mitochondrial disease, determine the safety and effecacy of …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… (germline) cancer, somatic cancer and inborn errors of metabolism have been brought together to assist in these … with expertise in cardiovascular disease, inborn errors of metabolism, somatic cancer, neuromuscular disorders, … of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Hum Mutation . …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… Shaibani A*, Shchelochkov OA* , Wong L-J, Shinawi M . Mitochondrial neurogastrointestinal encephalopathy due to …