SFARI is working to advance autism science by providing a number of key resources to researchers.
We solicit applications for SFARI Awards from individuals who will conduct bold, imaginative, rigorous and relevant research in four main research areas: gene discovery, molecular mechanisms, circuits, cognition and behavior, and clinical.
John Rubenstein and colleagues identified WNT signaling as a key mediator of Tbr1-dependent functions in deep-layer cortical neurons, and showed that normalizing WNT signaling rescues particular mutant phenotypes.
Kurt Haas and colleagues used multiple models and bioassays to assess the functional impact of more than 100 missense and nonsense mutations in PTEN, allowing for high-confidence predictions of pathogenicity.
Kimberly Huber, Joel Richter and colleagues showed that FMRP deficiency in mice leads to changes in a key histone modification across the genome, with subsequent effects on alternative splicing of many ASD risk genes.