Simons Searchlight

Simons Searchlight is an initiative of the Simons Foundation Autism Research Initiative (SFARI) that aims to better understand genetic neurodevelopmental conditions, specifically those associated with autism spectrum disorder (ASD).

Previously named Simons Variation in Individuals Project (Simons VIP), the name change aims to better reflect the program’s mission to shed light on these conditions by building strong partnerships between researchers and families. In addition to the name, other recent changes include updating the community website, as well as streamlining the online registration process.

Visit Simons Searchlight to join an online support community that links families with genetic changes to each other and to research opportunities.

Currently, Simons Searchlight collects family, medical, developmental and behavioral information through online surveys and phone interviews with families and individuals. Recently the scope has expanded to include new rare genetic disorders. Over the past nine years, Simons Searchlight has studied 53 genes and four copy number variants (CNVs) associated with ASD and other neurodevelopmental conditions. Today, 159 genes and 19 CNVs are part of the Simons Searchlight community.

This expansion has been made possible through new coordinated efforts with SPARK (Simons Foundation Powering Autism Research for Knowledge), a SFARI initiative that aims to recruit, engage and retain a community of 50,000 individuals with autism and their family members living in the United States. SPARK returns genetic findings to participants who are found to carry ASD risk variants.

SPARK participants who receive a genetic diagnosis — together with any individual (worldwide) who has been given a professional diagnosis for one of the genetic conditions that are being studied by Simons Searchlight — will now have the opportunity to join Simons Searchlight. Joining such a community enables families to find and engage with others with the same genetic condition, as well as providing opportunities to connect with researchers and participate in studies aimed at bettering our understanding of these disorders and, in some cases, clinical trials to advance treatments.

Over 1,500 individuals with rare disorders and their families are currently registered in Simons Searchlight and more than 50 research papers have resulted from data collected from Searchlight families. These numbers are expected to grow significantly in the coming years, and so are the research opportunities for participants as well as investigators studying these conditions.

The initial phase of Simons Searchlight (Simons VIP Phase 1), which ended in early 2014, involved in-person evaluations at clinical study sites. There, participants underwent extensive psychological and neurological testing, along with neuroimaging — including magnetic resonance imaging (MRI), functional MRI and magnetoencephalography (MEG) — with a uniform protocol and collection of biospecimens.

“Simons Searchlight is a community of incredibly dedicated researchers and families who work together to improve the lives of those affected by these rare conditions,” says Wendy Chung, director of clinical research at SFARI, Principal Investigator of Simons Searchlight and SPARK, and the Kennedy Family Professor of Pediatrics in Medicine, Columbia University. “We are committed to maximizing their efforts to accelerate research on these conditions and are extremely proud that we have significantly expanded the number of genetic conditions that are now part of the Searchlight community.”

Gene/CNV list

Phenotypic data

Phenotypic data from the following individuals are currently available to approved researchers via SFARI Base.

Copy number variants (individuals enrolled in Phase 1 and/or Phase 2):

  • 289 carriers of the 16p11.2 deletion
  • 192 carriers of the 16p11.2 duplication
  • 66 carriers of the 1q21.1 deletion
  • 73 carriers of the 1q21.1 duplication

Single genes (all individuals enrolled in Phase 2):

  • 21 individuals with ADNP mutations
  • 8 individuals with ANKRD11 mutations
  • 49 individuals with ASXL3 mutations
  • 17 individuals with CHAMP1 mutations
  • 5 individuals with CHD2 mutations
  • 6 individuals with CHD8 mutations
  • 16 individuals with CSNK2A1 mutations
  • 6 individuals with CTNNB1 mutations
  • 24 individuals with DYRK1A mutations
  • 7 individuals with FOXP1 mutations
  • 46 individuals with GRIN2B mutations
  • 17 individuals with HIVEP2 mutations
  • 17 individuals with HNRNPH2 mutations
  • 26 individuals with MED13L mutations
  • 23 individuals with PACS1 mutations
  • 59 individuals with PPP2R5D mutations
  • 5 individuals with PTCHD1 mutations
  • 103 individuals with SCN2A mutations
  • 20 individuals with SETBP1 mutations
  • 57 individuals with STXBP1 mutations
  • 32 individuals with SYNGAP1 mutations

Genetic data

Genetic data are available for a subset of individuals and their families enrolled in Phase 1.

More information is available in SFARI Base and in the publications listed below:

Single nucleotide polymorphism (SNP) genotype data

  1. Duyzend M.H. et al. Am. J. Hum. Genet. 98, 45-57 (2016) PubMed, Data available through SFARI Base

Targeted sequencing data

  1. Nuttle X. et al. Nature 536, 205-209 (2016) PubMed, Data available through SFARI Base (targeted sequencing around the 16p11.2 rearrangement breakpoints; please reference accession SFARI_SVIP_MIPS_1)
  2.  

  3. Fiddes I.T. et al. Cell 173, 1356-1369 (2018) PubMed (targeted sequencing around the 1q21.1 rearrangement breakpoints; please reference accession SFARI_SVIP_VSV_1)

Whole-exome sequencing data

  1. Daly M.J. et al. (in preparation) Data available through SFARI Base

Whole-genome sequencing data

  1. Nuttle X. et al. Nature 536, 205-209 (2016) PubMed, Data available through SFARI Base (please reference accession SFARI_SVIP_WGS_1)
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