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Simons Simplex Collection

The Simons Simplex Collection (SSC) is a core project and resource of the Simons Foundation Autism Research Initiative. The SSC achieved its primary goal to establish a permanent repository of genetic samples from 2,700 families, each of which has one child affected with an autism spectrum disorder, and unaffected parents and siblings. Each genetic sample has an associated collection of data that provides a precise characterization of the individual (phenotype). Rigorous phenotyping maximizes the value of the resource for a wide variety of future research projects on the causes and mechanisms of autism.

The SSC is operated by SFARI in collaboration with 12 university-affiliated research clinics. The clinics identified and assessed potential SSC participants, with guidance from the University of Michigan Autism & Communication Disorders Center, to ensure uniformity across clinics. Please click through for a Q&A with Cathy Lord, the principal investigator of the SSC.

Previous pioneering efforts to collect genetic samples focused on families with multiple individuals affected with autism spectrum disorders, most notably the Autism Genetic Resource Exchange, which is an ongoing effort to identify such multiplex families. The SSC differs from those efforts in its focus on simplex families, and in its clinic-based assessment and diagnosis.