Autism Cohorts: Simons Simplex Collection

Overview

The Simons Simplex Collection (SSC) is a research cohort of approximately 2,600 families established by the Simons Foundation Autism Research Initiative (SFARI) to advance understanding of the genetic and biological basis of autism.

This cohort focuses on simplex families, in which one child has autism and the biological parents and siblings do not. Participants were recruited and assessed through 12 university-affiliated clinical sites using standardized diagnostic and phenotypic assessments. Enrollment was completed in 2011, creating a deeply phenotyped family-based resource that has supported research into the genetic and biological mechanisms associated with autism.

The collection includes phenotypic, genomic and other molecular data from individuals with autism and their family members, along with biospecimens that enable researchers to investigate relationships between genetic variation, biological mechanisms and autism-related traits.

A subset of SSC families is enrolled in the SSC Registry, a contactable registry that enables approved researchers to recruit eligible families into new studies through Research Match.

Available data & biospecimens

The SSC includes a broad collection of phenotypic, genomic and molecular data and biospecimens from individuals with autism and their family members, including:

• Phenotypic data: standardized diagnostic, cognitive, behavioral, developmental and medical information collected from individuals with autism and their family members.
• Genomic and molecular data: whole-exome and whole-genome sequencing, SNP genotyping, copy-number variation, targeted sequencing, gene-expression, mitochondrial DNA variation and DNA methylation data generated through SSC-supported and investigator-led studies.
• Biospecimens: DNA, lymphoblastoid cell lines (LCLs) and induced pluripotent stem cell (iPSC) lines available from subsets of SSC participants.

Data and biospecimens can be linked across family members, supporting analyses of inherited and de novo genetic variation and relationships between genotype and phenotype.

Current datasets, biospecimen availability and associated documentation are maintained in SFARI Base. 

Research Match enables approved researchers to recruit eligible families enrolled in the contactable SSC Registry into new research studies.

The SSC Registry includes a subset of families from the original SSC who agreed to be recontacted for additional research. Researchers interested in recruiting SSC families can review the SSC Recruitment Process Document for details and submit a Research Match request through SFARI Base.