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The Simons Simplex Collection

Catherine Lord, Ph.D.
Weill Cornell Medical College

The Simons Simplex Collection (SSC) is a rigorously characterized set of data drawn from 2,700 families, designed to enrich the discovery of rare and de novo events in autism spectrum disorders. Twelve sites in North America provided data from families who have one child between 4 and 18 years of age with an autism spectrum disorder. Data from each family also include information about unaffected siblings and unaffected biological parents.

The collection does not include individuals who have fragile X syndrome, Down syndrome, prematurity or neonatal complications, or families with a history of psychiatric disorders. The researchers used extensive protocols to ensure reliability in the administration and scoring of the numerous cognitive and behavioral assessments. They sent blood samples from all family members to the Rutgers University Cell and DNA Repository in New Jersey, where genomic DNA was extracted and lymphoblastoid cell lines were established and stored.

Phenotypic and genotypic data, as well as biospecimens, are available to approved researchers via SFARI Base, a central database of clinical and genetic information from families affected by autism or other neurodevelopmental disorders. More than 80 investigators using the SSC for data or biospecimens have studies under way, which have so far led to 18 publications.

A new partnership with the Interactive Autism Network (IAN), an online project that brings together researchers and thousands of people affected by autism spectrum disorders, has created the SSC@IAN, an online registry that allows coordination of follow-up studies and helps maintain a community of SSC families.