Simons Searchlight is a Simons Foundation Autism Research Initiative (SFARI) program that aims to better understand rare genetic neurodevelopmental conditions.

Previously named Simons Variation in Individuals Project (Simons VIP), the name change better reflects the program’s mission of shedding light on these conditions by collecting natural history data.

Many studies of autism have recruited individuals with behavioral diagnoses of the condition. As these studies grew, genetic sequencing revealed de novo variants in participants that contributed to their neurodevelopment. This, along with the high degree of heterogeneity seen in autism (both in genotype and phenotype), prompted scientists to wonder whether recruiting based on genetics rather than clinical diagnosis might provide unique insights into developmental trajectory and intervention responses.

Simons Searchlight was founded to focus on studies that group by genetics, initially beginning with 16p11.2 deletion or duplication. It has since expanded into other variants associated with autism and related neurodevelopmental disorders.

The mission of Simons Searchlight — supported by the Simons Foundation and the Simons Foundation Autism Research Initiative (SFARI) — is to shed light on neurodevelopmental disorders by collecting high-quality, standardized natural history data and building strong partnerships between researchers, industry and families. Data from the first phase of the project, also known as Simons VIP, can be found here.

From the outset, Simons Searchlight is committed to open science and encourages collaboration between organizations and studies focused on autism and neurodevelopmental disorders to accelerate research.

Types of data/resources available to approved researchers are listed below. All are available on SFARI Base.

• Genetic variant data: Today, 160 genes and 24 copy number variants (CNVs) are part of the Simons Searchlight community, with a continued curation of the list. A list of genetic variants observed in Simons Searchlight participants can be found here. Variants that are found in more than one participant have counts indicated. Variants are classified as pathogenic, likely pathogenic, or variants of uncertain significance (VUS). In-frame deletions or substitution variants were categorized as missense variants. Genetic conditions newly available in this data release are highlighted in yellow.
• Phenotypic data: Phenotypic data, including family, medical, developmental and behavioral information, is collected through online surveys with families and individuals. A summary of the number of carriers per genetic community that have contributed data for each phenotypic measure can be found here.
• Biospecimens: Induced pluripotent stem cells (iPSCs), whole blood (WB) DNA and lymphoblastoid cell lines (LCLs) are available from the SFARI Data and Biospecimen Repository (SDBR).

Additional Resources:

See below for a list of other potentially helpful resources:

• Online tools to visualize and analyze SFARI genomic and phenotypic data
• Researcher welcome packet: a document that outlines the structure of the data in SDBR
• Researcher distribution agreement: the document that is signed when accessing the data
• How to access SFARI Base and request SFARI resources: an outline of how to navigate data access
• Simons Searchlight institutional review document
• Associated costs for obtaining and shipping biospecimen samples can be found here

Research Match

Research Match is an in-kind service provided by SFARI at no cost to researchers that enables approved researchers to re-contact participants from SFARI autism cohorts, including Simons Searchlight, for recruitment into new research studies. Learn more about Research Match by reviewing the Simons Searchlight Research Match Recruitment Process Document.

Publications

See here for all publications made possible by Simons Searchlight.

For Participants

Join Simons Searchlight, an international online research program registry that works with families and researchers around the world to help speed up research on rare genetic neurodevelopmental disorders. Participants can also be invited to additional research studies aimed at better understanding these disorders and, in some cases, clinical trials to advance treatments. Simons Searchlight studies over 175 genes that cause rare neurodevelopmental disorders, and our list is always expanding. Individuals and their families can learn more about the genes we study and participate by visiting https://www.simonssearchlight.org/ or calling 855-329-5638.