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Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… gene correction using lenti- and adenovirus-mediated gene delivery, the section engineered a series of adeno-associated … gene therapy using 13C isotopomer metabolism. The gene delivery approach and monitoring platform the team has … Chandrasekaran S, Venditti CP. Liver-directed rAAV gene delivery rescues a lethal mouse model of methylmalonic …
MINC
As genomic competencies have been delineated for all nurses, this presented an opportunity to provide support to nurse leaders to become aware of, plan for, and begin to incorporate genomics into practice.
… safe personalized healthcare. Champions as designers of delivery systems can accelerate the process of practice … their workforce and creating policies that assure delivery of responsible, effective, and accountable care that …
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… during pregnancy, including preterm birth, labor and delivery, as well as acquisition of microbiomes by newborns. …
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 …
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 …
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 …
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 …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… ; examining the impact of racial bias in health service delivery 17 and monitoring diversity, equity and inclusion …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… Working Group is multi-faceted: Explore return of result delivery models for genomic testing across diverse … of results process including information received, mode of delivery and overall patient experience. The WG will … consent and return of results processes, as well as the delivery and personal utility of genomic medicine more …
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 …