After recently publishing a perspective in Nature Reviews Genetics describing the challenges to achieving diversity in genomics research, NHGRI leadership held a Reddit "Ask Me Anything" (AMA) on December 1 to discuss the variety of ways in which participant diversity can expand the translation of research findings and the steps they're taking to ensure all populations are included. Here we recap the discussion and point you to the full discussion on Reddit.
Precision medicine is a revolutionary approach to healthcare that takes into account individual differences in lifestyle, environment - and especially our genomes. However, a recent paper suggested that some people are being left behind. NHGRI recently published a perspective that lays out the challenges to achieving diversity in genomics research and what we are doing to help. Check out the new Nature Review Genetics publication that appeared online (ahead of print) on November 20.
A new educational resource is now available to help educators improve genomic literacy among physicians. Funded by the National Human Genome Research Institute (NHGRI), The Universal Genomics Instructor Handbook and Toolkit provides materials and guidance for educators implementing introductory training in genomic medicine.
Researchers from the Genotype-Tissue Expression (GTEx) Consortium, funded by the National Institutes of Health, have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives rise to an observable trait, like hair color or disease risk. This atlas is a critical resource for the scientific community interested in how individual genomic variation leads to biological differences across human tissues and cell types.
NIH's Undiagnosed Diseases Network (UDN) recently released five funding opportunities that continue research in improving the level of diagnosis and care for patients with undiagnosed diseases. Pending the availability of funds and sufficient applications, the program expects to create a coordinating center, 8-10 clinical sites and 3-6 core laboratories to focus on model organisms, DNA sequencing and metabolomics. To help potential applicants, UDN will hold an informational webinar on Sept. 14th, from 3:00-4:30 p.m. Eastern.