Autism Cohorts: Simons Searchlight

Overview

Simons Searchlight is a research program that studies rare genetic variants associated with autism and related neurodevelopmental disorders. Rather than recruiting based on clinical diagnosis, Simons Searchlight groups participants by their underlying genetic variant, an approach designed to provide insight into developmental trajectory and intervention response across a range of conditions.

Supported by the Simons Foundation Autism Research Initiative (SFARI), Simons Searchlight began with a focus on 16p11.2 deletion and duplication and has since expanded to include a growing list of genetic variants linked to neurodevelopmental disorders. The program is committed to open science and collaborates with researchers, industry partners and families to collect standardized natural history data.

The program’s first phase, known as Simons VIP, was conducted from 2010–2014 through in-person clinical assessments. Data from this earlier phase remain available to researchers alongside current Simons Searchlight data, both of which are made available to approved researchers through SFARI Base, SFARI’s data and biospecimen portal.

Available Data

Simons Searchlight collects genetic, phenotypic and biospecimen data from participants and their families, including:

• Genetic variant data: classified by pathogenicity and curated on an ongoing basis as new variants and conditions are added to the program.
• Phenotypic data: family, medical, developmental and behavioral information collected through participant and family surveys.
• Biospecimens: induced pluripotent stem cells (iPSCs), whole blood DNA, and lymphoblastoid cell lines, available through the SFARI Data and Biospecimen Repository (SDBR).

Data from the program’s earlier phase (Simons VIP) additionally includes SNP genotyping, targeted and whole-exome/genome sequencing, imaging (MRI/fMRI/MEG), plasma biospecimens, and in-depth phenotyping.

Current data types, measures, and availability by genetic variant are maintained in SFARI Base.

Research Match enables approved researchers to recontact Simons Searchlight participants for recruitment into new research studies, at no cost to researchers. See the Simons Searchlight Research Match Recruitment Process Document for details.