Using sequencing data from the Simons Simplex Collection, Zhenglong Gu found an enrichment of predicted pathogenic mutations in mitochondrial DNA in autism.

Benjamin Cheyette finds higher rates of DIXDCI disruptions in individuals with ASD, schizophrenia or bipolar, and DIXDC1 signaling rescue improves mouse ASD-like behaviors.

Presentations that will be given by SFARI Investigators at Neuroscience 2016 in San Diego (November 12-16) are highlighted.

Rudolf Jaenisch has developed a method enabling the generation of microglia-like cells from human embryonic stem cells and induced pluripotent stem cells.

Liqun Luo uses conditional, cell-type-specific RAI1 deletions in mice to assess how loss of RAI1 contributes to neurodevelopmental phenotypes in Smith-Magenis syndrome.

By assessing human accelerated regions (HARs) in healthy individuals and those with ASD, Chris Walsh shows HARs regulate human social and cognitive behavior and ASD risk.

In this blog post, the SFARI science team provides insight into SFARI’s scientific priorities. A number of experimental design issues to consider when preparing a grant application in response to the 2017 Pilot and Research Awards RFA are also discussed.

This blog post accompanies the “SFARI’s 2017 funding priorities” post. In it, the SFARI science team discusses the application and review process for Pilot and Research Awards.

New Simons VIP 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, GRIN2B mutations and SCN2A mutations (all enrolled in the Phase 2 study). New genetic data (single nucleotide polymorphism microarray data and molecular inversion probe sequencing data) are available for many of the 16p11.2 CNV families enrolled in Phase 1.

Huda Zoghbi and Stelios Smirnakis investigate how opposing molecular deficits in MeCP2 duplication and Rett syndromes lead to similar behavioral phenotypes.