In 2010, as genetic analyses of families in the Simons Simplex Collection (SSC) were pinpointing specific genetic variants associated with autism, SFARI scientists recognized the opportunity to invert the experiment. The SSC starts with families that have a child with an autism diagnosis, and looks for genetic risk factors underlying the condition. What could be learned, then, by going in the other direction: starting with individuals that have one of these risk factors, and studying their features?
From this ‘gene first’ concept was born the Simons Variation in Individuals Project (Simons VIP), which began by collecting genotypic and phenotypic data from more than 200 individuals, along with their family members, with variations in a genomic region called 16p11.2. Those data have given rise to more than 25 research papers.
In the years since the Simons VIP’s start, whole-exome sequencing of the SSC and other collections has led to the discovery of dozens of genes implicated in autism. These studies provide compelling evidence that autism is not a single condition, but a collection of many related conditions.