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News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
Policy Issues
NHGRI has created the IDE Greenhouse as an educational resource to help increase understanding of the regulation in the genomics context.
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… disease, the test could have a strong impact on veterinary diagnostics. More work will be needed to produce an …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… (Health Transformation Alliance), Jay Wohlgemuth (Quest Diagnostics), Jane Gilbert (Teachers' Retirement System of … wellness Robb Rowley (NHGRI) Jay Wohlgemuth (Quest Diagnostics) 3:40 - 4:00 p.m. Discussion Moderator: Geoff …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… in FDA Regulatory Oversight of NGS-Based In Vitro Diagnostics Used for Diagnosing Germline Diseases … The FTC’s …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… diseases Drew Michael, Ph.D. Molecular and biochemical diagnostics Debra Regier, M.D., Ph.D. Metabolic disorders, … Clinical Director, NHGRI Erin Strovel, Ph.D. Biochemical diagnostics Cynthia J. Tifft, M.D., Ph.D. Glycosphingolipid …