Analysis of Simons VIP Biospecimens Request for Applications

This RFA sought proposals that take advantage of the unique combination of biospecimens and rich phenotypic information collected by Simons VIP (Simons Variation in Individuals Project, now known as Simons Searchlight). The Simons VIP comprises a large cohort of individuals with a deletion or duplication of chromosomal segment 16p11.2 (approximately 100 deletion and 100 duplication carriers), with a wealth of phenotypic (behavioral, neurological and neuroimaging) data collected from these individuals and their families. Although SFARI was open to many different approaches, priority was given to proposals that aimed to accomplish a comprehensive characterization of RNA expression differences and correlate such expression patterns with phenotypes. Furthering the ability to include genomic analysis was considered an additional strength. The data produced in this effort was later made available to the research community. About 20 percent of deletion and duplication carriers meet strict criteria for an autism diagnosis; many other carriers have other neuropsychiatric diagnoses, including a high rate of language difficulties.