SFARI is now accepting applications for the Winter 2020 Pilot Award RFA. This award is especially suited for proposals with exploratory ideas and novel hypotheses for autism.

Timothy Yu and colleagues analyzed exome sequencing data to estimate that recessive mutations contribute to approximately 5 percent of all cases of autism, including 10 percent of females.

SFARI is pleased to announce that it intends to fund nine grants in response to the 2019 Research Award request for applications.

Olga Troyanskaya, Robert Darnell and colleagues applied deep-learning methods to whole-genome sequencing data from SSC families and identified a clear enrichment for de novo noncoding variation in ASD.

James Ellis and colleagues used a sparse co-culture system for iPSC-derived cortical neurons to assess neuronal connectivity, demonstrating increased connectivity in SHANK2-mediated ASD.

This issue of the SFARI newsletter includes: (1) SPARK update, (2) Autism BrainNet establishes collaboration with the Douglas-Bell Canada Brain Bank, (3) SFARI Gene: New data release, (4) SFARI Investigators elected to the National Academy of Sciences, (5) SFARI Investigators elected to the American Academy of Arts & Sciences, (6) SFARI fall 2018 science meeting report, (7) A Conversation with SFARI Bridge to Independence Investigator Seth Shipman, (8) 2019 Bridge to Independence Award – Request for applications, (9) Highlights of SFARI-funded research, (10) Upcoming webinar: “SFARI Viewer – an online platform to visualize and analyze SFARI genomic data”, (11) Past lecture: David Van Essen, “Mapping human cerebral cortex: Structure, function, connectivity, development and evolution”, (12) Recent media coverage of SFARI.

Mark Zylka and colleagues generated single-cell RNA-seq data from wild-type mouse cortex during early development and demonstrated how such a resource can be used to identify putative brain disorder subtypes based on expression profiles.

On June 14, 2019, Alistair Ward and Chase Miller will introduce SFARI Viewer and show how this online platform can be used to visualize and analyze genomic and phenotypic data from the SSC and SPARK.

SFARI held its fourteenth science meeting September 30–October 2, 2018. SFARI investigators, collaborators and foundation staff came together to discuss recent findings in autism genetics, molecular and system-level mechanisms, as well as clinical studies. The meeting featured keynote and session presentations, in addition to demo sessions of online platforms for visualizing and analyzing data sets relevant for autism research.

More than 65,000 people with autism are now enrolled in SPARK, making it the largest autism research study to date. Many of these individuals and their families are actively participating in research opportunities through the research match program.