Functional Screen of Autism-Associated Variants Request for Applications

Grants awarded through this RFA were intended to advance our understanding of the genetic basis of autism, and in particular the potential role of missense and in-frame deletion variants in conferring risk. Data to be analyzed under this RFA came in part from the exome sequencing of more than 2,500 families from the Simons Simplex Collection (SSC). The program sought proposals for the development and application of medium- or high-throughput screens to test for the functional effects of missense and in-frame deletion variants identified in the SSC and other autism collections. One key goal was to compare the impact of variants when inherited in individuals with autism versus unaffected siblings or controls, to support a case for particular genes in autism susceptibility. The initial funding period provided a one-year pilot up to $250,000 including 20 percent of the modified total direct costs, beginning August 1, 2015. A subset of selected pilots were awarded an additional two years of funding.