On February 22, 2018, SFARI organized a workshop on the uses of digital tools for phenotyping cognition and behavior in brain disorders. Goals of the workshop included learning more about technologies that can reproducibly and accurately measure autism-relevant behaviors and discussing how the tens of thousands of participants recruited through SPARK can help to collect data on and phenotype autism behaviors at scale.

New data were added to SFARI Gene in November 2018. This data release included updated gene scores for candidate autism risk genes, as well as the addition of new genes and copy number variant loci associated with autism. New mouse, rat, zebrafish and Drosophila models were also added.

SFARI is pleased to announce that it has selected four awardees in response to the 2018 Bridge to Independence Award request for applications. This program helps early-career scientists transition from mentored training positions to independent careers in autism research.

This issue of the SFARI newsletter includes: (1) SFARI 2018 Explorer awardees announced, (2) Research opportunities at family meetings of rare, genetic developmental disorders, (3) SFARI workshop revisited the excitation-inhibition hypothesis of autism, (4) SFARI workshop highlighted chromatin-associated proteins and autism risk, (5) 2019 SPARK Clinical Site Network – Request for applications, (6) 2019 Research Awards – Request for applications, (7) Upcoming lecture: André Fenton, “Rethinking autism and animal models: A systems perspective”, (8) Upcoming lecture: Pawan Sinha and Dagmar Sternad, “The predictive impairment hypothesis in autism: An empirical assessment”.

Family-organized groups are planning a number of meetings in 2019 for individuals with rare genetic neurodevelopmental conditions, including those due to 16p11.2 copy number variants and mutations in ASXL3, PACS1, PPP2R5D, SCN2A and STXBP1 single genes. SFARI can help to facilitate research opportunities at these meetings by connecting investigators with families.

On April 17, 2018, molecular neuroscientists and geneticists gathered at the Simons Foundation for a workshop on the role of chromatin-associated proteins in autism spectrum disorder. The workshop discussed the biology and function of these proteins in brain development, while considering translational opportunities and evaluating ways that SFARI could potentially help move research in this area forward.

SFARI is pleased to announce that it expects to have funded 22 grants in response to the Explorer Awards request for applications (RFA) this year.

On May 15, 2018, SFARI convened a workshop to revisit the excitation/inhibition (E/I) hypothesis of autism, a synaptic-based account of the disorder that has been highly influential in the last fifteen years of autism research. The workshop critically evaluated the E/I hypothesis in light of the current knowledge of autism pathophysiology and called for a more precise definition of the hypothesis that can help enable translational opportunities from animal- to human-based research.

This issue of the SFARI newsletter includes: (1) Presentations by SFARI Investigators at Neuroscience 2018, (2) Simons VIP: New data release, (3) AIMS-2-Trials has launched, (4) A Conversation with Paul Wang, Deputy Director of Clinical Research Associates, (5) 2019 SPARK Clinical Site Network – Request for Applications, (6) SFARI Social at Neuroscience 2018, (7) Past lecture: Richard Lifton, “From genes and genomes to biology and health”.

The Innovative Medicines Initiative, a European public-private initiative, recently awarded a €115 million five-year grant for autism research. The Autism Innovative Medicine Studies-2-Trials (AIMS-2-Trials) brings together 48 partners from academia, industry and nonprofit foundations, including SFARI.