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Simons Simplex Collection
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Simons Simplex Collection Sites University of Washington University of California, Los Angeles Baylor College of Medicine University of Missouri Vanderbilt University Emory University University of Illinois University of Michigan Autism and Communication Disorder Center Columbia University Yale University McGill University Children's Hospital Boston

 

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The Simons Simplex Collection (SSC) is a core project and resource of the Simons Foundation Autism Research Initiative (SFARI). The primary goal of the SSC is to establish a permanent repository of genetic samples from 2000 families, each of which has one child affected with an Autism Spectrum Disorder (ASD) and parents unaffected with ASD. Each genetic sample will have an associated collection of data that provides a precise characterization of the individual (phenotype). Rigorous phenotyping will maximize the value of the resource for a wide variety of future research projects into the causes and mechanisms of autism.

The Simons Simplex Collection is operated by SFARI in collaboration with twelve university-affiliated research clinics. The clinics identify and assess potential SSC subjects, with guidance from the University of Michigan Autism & Communication Disorders Center (UMACC), to ensure uniformity across clinics.

Previous pioneering efforts to collect genetic samples focused on families with multiple individuals affected with ASD, most notably the Autism Genetic Resource Exchange (AGRE), 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 initial collection period to identify 2000 families is slated to last for two years.
  • The Simons Foundation has committed roughly $6 million of its Autism Research Initiative funds for the first year of operation of the Simplex Collection.
  • The current collaborating institutions are listed on SSC Sites.
  • Blood samples will be processed into cell lines and DNA at the Rutgers University Cell and DNA Repository (RUCDR). Stored samples will be freely available to SFARI grant holders, and to other researchers on a modest fee-for-use basis.
  • Data will be collected and managed using software developed by Prometheus Research, LLC. A central database characterizing all of the study subjects (with identifying information removed) will be available to any qualified researcher through a web interface called SFARI Base.
  • Participants in the SSC project communicate and manage the project using online collaboration software called Basecamp.

 

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