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.
Michael Piper and colleagues confirmed and extended the association of USP9X loss-of-function mutations with a neurodevelopmental syndrome in both sexes, driven by changes in multiple signaling pathways.
Garret Stuber and colleagues used in vivo calcium imaging to show that a population of oxytocin-positive (OT) neurons in the paraventricular nucleus of the hypothalamus responds preferentially to social stimuli and is necessary for regulating social behavior. Reduced number of OT neurons was associated with social deficits in Shank3b KO mice.
Joseph Buxbaum and colleagues in the Autism Sequencing Consortium reported the largest exome sequencing study of ASD to date, identifying 102 risk genes at a false discovery rate of 0.1 or less.