Simons Searchlight July 2025 Update: New Phenotypic Data Available

The Simons Foundation Autism Research Initiative (SFARI) is pleased to announce that Simons Searchlight has released new data from over 5,600 individuals with a genetic diagnosis on the Simons Searchlight gene inclusion list. The collection includes data covering 123 single gene variant conditions and 19 copy number variant (CNV) conditions. Approved investigators can request access to this data via SFARI Base.

Some highlights of this release include:

• Phenotypic and biospecimen data for more than 1,800 new participants, including data on 29 new single gene variants and four new CNVs
• Updated summaries of medical history, medications and previous diagnoses data integrating across online- and interview-collected data sources
• New information collected on genetic testing methods, seizure history, background history and race and ethnicity
• New phenotypic data from somatic mosaic individuals and X-linked carriers, as well as unaffected family members who participated in Simons VIP/Phase 1
• Updates in data configurations or data structure related to age at evaluation, behavior and development, medical and previous diagnosis history, potential confounds, medications, seizures and deceased status
• New inclusion of the Clinical Research ID (CRID, thecrid.org) when available to support de-identified data linking with external datasets

In addition, biospecimens are available from participants who have contributed blood samples. Biospecimens include cell lines (fibroblasts, lymphoblastoids and induced pluripotent stem cells) and DNA (derived from saliva, lymphoblastoids or whole blood). See a complete list of the currently available biospecimen data.

You may also access a list of the measures available and the corresponding number of individuals with each genetic disorder for each measure on the Simons Searchlight resource page.

The data are available for use by all approved researchers, regardless of SFARI funding. Research projects are not restricted to autism or other neurodevelopmental conditions. There is a six-month embargo on genomic data, but there is no embargo on phenotypic data. Interested researchers are encouraged to familiarize themselves with the Simons Searchlight Researcher welcome packet.