The HGG Advances Award for Outstanding Early Career Publication recognizes research excellence from ASHG members who have recently begun their independent research careers. Philip Boone, a clinical geneticist, former postdoc, and now an Instructor in the lab, was awarded this for his paper on SMC3 mutations in HGG Advances at the 2024 ASHG conference in [...]
A few members of the lab volunteered at the Doug Flutie Jr. Foundation STARS of the Spectrum Music Festival on August 3 at the Veterans Memorial Stadium in Quincy, MA. The festival is a sensory-friendly, inclusive event highlighting musicians and artisans with autism. The event was well attended, with over 100 performances for the thousands [...]
The Broad Institute's All of Us (AoU) Genome Center and All of Us Data and Research Center have led multiple aspects of variant discovery and data releases for this national biobank initiative. In June 2024, the laboratory of institute member and All of Us Co-I Mike Talkowski, including Emma Pierce-Hoffman, Mark Walker, Harrison Brand, Chris Whelan, [...]
The current standard of care for fetal genetic testing requires an invasive medical procedure such as amniocentesis to survey individual DNA changes in the fetal genome. Here, the Talkowski laboratory has developed a new technology that enables pregnant persons to screen the protein-coding sequence of all genes in the fetal genome from a simple blood [...]
