Search Results
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient'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 …
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 …
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 …
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 …
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 …
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 …
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 …