SFARI held its thirteenth science meeting April 8–12, 2018. SFARI investigators, collaborators and foundation staff came together to discuss recent findings in autism genetics, molecular and system-level mechanisms, and clinical studies. In addition to keynote and session presentations, two panels convened investigators to discuss the current state of autism genetics research and the biology of SCN2A, a high-confidence autism risk gene.
Two SFARI Investigators are among the 84 newly elected members of the National Academy of Sciences.
SFARI is soliciting your feedback about the utility and priority of induced pluripotent (iPS) cells from individuals with high-confidence autism risk variants. Your comments will help us to create a research infrastructure that will allow the use of SFARI biospecimen resources in the most impactful way.
Lauren Weiss and Erik Ullian report on two studies using carrier-derived iPSC neurons to elucidate cellular phenotypes associated with 16p11.2 CNVs and a BRAF RASopathy mutation.
Stessman aims to use human cell lines engineered to express patient mutations to determine how these genes contribute to disease etiology, particularly during early development of the human brain. These cell lines will also be a useful tool for therapeutic development in the future.
SFARI is pleased to announce that it has awarded 32 grants (19 Pilot Awards and 13 Research Awards) in response to the 2017 Pilot and Research Awards request for applications (RFA).