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.
- The collaborating institutions are listed on SSC sites.
- Blood samples were processed into cell lines and DNA was extracted at the Rutgers University Cell and DNA Repository in New Jersey. Stored samples are available to approved researchers on a modest fee-for-use basis, through a web interface called SFARI Base.
- Data are collected and managed using software developed by Prometheus Research, LLC. A central database characterizing all of the study subjects (with identifying information removed) is available to any qualified researcher through a web interface called SFARI Base.
SSC wrap-up celebration, NYC
In October 2011 all those who worked on SSC data collection gathered in New York City for a final celebration of their achievement. Click here to read about that special gathering.