Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Educational Resources
Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair.
… if and how SNPs in a genome influence health, disease, drug response and other traits. … Single nucleotide …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
File
… of DNA diagnostics for communicable disease . .86 5.2.4 Drug-resistant organisms . . . . . . . . . . . . . . . . . . … genes, is already starting to provide new targets for drug therapy. For example, such knowledge has led to the … Problems of Developing Countries It is not often that a drug development process is as rapid or involves as many …
Event
The Genomics and Health Disparities Lecture Series was formed to enhance opportunities for dialogue about how innovations in genomics research and technology can impact health disparities. Topics will range from basic science to translational research.
… and the Office of Minority Health at the Food and Drug Administration. Request an Accommodation … Virtual: Zoom …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… to lung cancer may be associated with the T790M drug resistance mutation in EGFR . Nat Genet, 37:1315-1316. …
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… in disease etiology, health disparities and variable drug response. His lab develops genetic epidemiology models … candidate genes for BP regulation, and the latter is a drug target for a class of calcium channel blockers . The AA … and environmental basis of disease susceptibility and drug responses in Africans. Dr. Rotimi's contribution to this …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… It almost never gets used. We have CDS for >30 gene-drug pairs in our EHR; this may be relevant, but is not … a consultservice. We have a physician who is expert in drug interactions and PGx, Tom Callaghan, M.D., Ph.D., who has a special clinic setup for difficult cases of drug therapy adverse events and consults for PGx. In our …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… can impact physical traits such as risk of disease or drug toxicity. In this paper (Surendren et al., 2022), … of proteins that are potentially related to adverse drug effects or other health outcomes.  This research was …
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.
… genetic testing (DTC-GT). FDA = Food and Drug Administration; GAO = US Government Accountability … 2007: DTC-GT was offered at $1,000.  2010:  The Food and Drug Administration (FDA) initiated regulatory proceedings … clearance for a pharmacogenetics report for interpretive drug information for two medications — clopidogrel and …