New NHGRI intramural precision health research program

The Clinical Genome (ClinGen) Resource is an NHGRI-funded program and the first FDA-recognized public genetic variant database that defines the clinical relevance or validity of genes in genetic disorders for use in precision medicine and research. A ClinGen expert panel recently reevaluated the scientific evidence for 17 genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes patients to dangerous cardiac arrythmias. The panel disputed nine of the genes, classifying them as having limited or disputed evidence for causing the syndrome, and confirmed only three of the genes to be definitively associated with the most common form of the disease. The panel’s results were published in the journal Circulation.

In Fiscal Year 2020, NHGRI received $10 million in appropriated funds for a new competitively awarded grant program for Emerging Centers of Excellence in Genomic Science. With these funds, NHGRI aims to build capacity at institutions that are not prior or current grantees of the Centers of Excellence in Genomic Science (CEGS) program. The CEGS program supports the formation of multi-investigator, interdisciplinary research teams to pursue novel and innovative genomic research projects. Additional information can be found in the recently issued Notice emphasizing an opportunity for new institutional applicants to the CEGS funding announcement. In addition to the regular application receipt dates in May 2020 and 2021, a new receipt date was added (March 26, 2020) to enable NHGRI to fund applications for Emerging Centers in Fiscal Year 2020.

Rare Disease Day is a worldwide observance that aims to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives. At NIH, the day commemorates the institutes’ commitment to funding research to help people with rare diseases. Events related to this year’s Rare Disease Day, which are being sponsored by the National Center for Advancing Translational Sciences (NCATS) and the NIH Clinical Center, will be held at the Natcher Conference Center on February 28.  The events will include inspiring stories by patients, their families and their communities, a town hall Q&A session, posters, and exhibits, as well as artwork and tours.  Admission is free open to the public. To register, visit here; you can also follow the event on social media using #RDDNIH. 

Attendees of the 2020 AAAS Annual Meeting in Seattle will have the opportunity to see a 20-minute preview of the “Ken Burns presents The Gene: An Intimate History” documentary. Specifically, on Feb. 15, 2020, NHGRI is sponsoring a 90-minute workshop featuring a discussion of the stunning breakthroughs in genetics and genomics (past and future), starting with a first-ever public viewing of the 20-minute preview of the PBS documentary based on the book by Pulitzer Prize-winning author, Dr. Siddhartha Mukherjee. Documentary producer Christopher Durrance of Ark Media, NHGRI’s Education and Community Involvement Branch Chief Dr. Carla Easter, and University of Washington’s Dr. Gail Jarvik will be available to answer questions about the documentary, ways that the documentary will be used to increase genomic literacy, and how recent genomic advances are changing the practice of medicine. NHGRI’s Communications and Public Liaison Branch Chief Sarah Bates will moderate the discussion. NHGRI is a proud partner for the documentary, which will be released on April 7 and 14, 2020.

South by Southwest (SXSW) is the premier conference for discovery and creativity. This interactive conference is the place to preview future technologies of tomorrow and learn about the new advances and approaches being applied to improve outcomes in the communities where we live, work, and play. For the first time, NHGRI will host two sessions for the SXSW Conference in Austin, Texas this March. Both sessions are intended to help increase genomic literacy. The first session, “Creating a Space for Genomics in All Classrooms,” will focus on how educators are bringing cutting-edge genomic science to students across the nation and creating spaces for difficult conversations about privacy, racism, ethics, and identity. The second session, “Why am I Irish Yesterday and Italian Today?” will explore direct-to-consumer genetic tests and what genetic ancestry tests can tell us about ourselves and how they can shape our identity.