SFARI scientific director Gerald Fischbach and principal investigator Catherine Lord of the University of Michigan published The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors on 21 October in the journal Neuron.
The article details the Simons Simplex Collection (SSC) and explains how the collection can be used to advance research on autism spectrum disorders (ASD).
The SSC is a large genetic and phenotypic dataset which, since its creation in 2008, has rigorously and thoroughly evaluated more than 2,000 families affected by autism. The purpose of the SSC is to analyze the genomes of ‘simplex’ families, in which one child is on the autism spectrum, but parents and other siblings are not. Unaffected siblings add an important control in identifying de novo genetic changes, which are not inherited from the parents. Because de novo variants have a significant impact on behaviors associated with autism, their discovery may more readily lead to an understanding of the biological processes that underlie ASD.
The SSC dataset offers researchers comprehensive phenotypic characterizations of the participating families, ensuring a higher degree of accuracy in linking de novo genetic changes to individuals on the autism spectrum. Making the data from so many families — all of whom have donated DNA — available to researchers is a significant addition to the study of genetic risk factors for autism. SSC data and biomaterials are available to investigators through SFARI Base.
This initiative has already led to several innovations. For example, a SFARI team, along with scientists at the National Institutes of Health, created the Global Unique Identifier system (GUID), which allows for the anonymous tracking of autism study participants across the nation. The GUID system is available for download. Other advances include two sets of whole genome scans of SSC families to find copy number variants. Raw data is available to approved researchers via SFARI Base.