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News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
Careers and Training
Scientists and thousands of other professionals are using discoveries in genetics to revolutionize the world. This means careers in genetics and genomics are booming. And there are many other careers you don’t usually think of as science, like education, social work, and even law and the arts that are affected by this growth, creating even more career opportunities.
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 …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
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.