SFARI

The Simons Variation in Individuals Project (Simons VIP) is studying individuals with recurrent genetic variants that increase autism risk.

Gastrointestinal (GI) distress commonly accompanies autism spectrum disorders (ASDs), significantly impacting the quality of life of those affected and their families. Julia Dallman, in collaboration with John Rawls, plans to use zebrafish as an experimental system, since it allows for the GI tract to be imaged and manipulated in live animals. They aim to determine if GI phenotypes in multiple genetic forms of ASD are caused by convergent gut-intrinsic mechanisms. The expected outcomes would open a new field of GI research for ASD that could suggest treatment strategies for managing GI distress in humans.

One of the challenges in assessing rodent models of autism/intellectual disability is linking specific genetic alterations to changes in neural function and behavior. Paul Dudchenko plans to address this challenge by using the head direction cell system — comprised of neurons that encode direction — to characterize rigid and flexible neural coding in Fmr1, Grin2b and Syngap1 knockout rats. This characterization will provide rich data on both the neural systems and the behavioral capacities of these three rodent models.

New Simons VIP Phase 2 data have recently been added to SFARI Base. This data release includes phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, and mutations in the following single genes: SCN2A, GRIN2B, PACS1, PPP2R5D, ADNP, MED13L, STXBP1, HIVEP2 and SYNGAP1.

New Simons VIP Phase 2 data were recently added to SFARI Base. This data release included data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs and mutations in the following single genes: ADNP, ASXL3, DYRK1A, FOXP1, GRIN2B, HIVEP2, MED13L, PACS1, PPP2R5D, SCN2A, SETBP1, STXBP1 and SYNGAP1.

New Simons VIP Phase 2 data were recently added to SFARI Base. This data release included data from individuals with 16p11.2 copy number variants, 1q21.1 CNVs and mutations in the following single genes: ADNP, ASXL3, CHAMP1, CHD8, CSNK2A1, DYRK1A, GRIN2B, HIVEP2, HNRNPH2, MED13L, PACS1, PPP2R5D, SCN2A, SETBP1, STXBP1 and SYNGAP1.

Simons Searchlight is studying individuals with recurrent genetic variants associated with autism and related neurodevelopmental disorders.