SFARI is pleased to announce that Simons Searchlight has launched a research matching program, through which researchers can apply to recruit individuals enrolled in Simons Searchlight into new research studies. Researchers can submit an application via SFARI Base.

Beginning on October 1, 2020, the recipients of the SFARI Bridge to Independence Award gathered with SFARI staff and advisors for a virtual ‘retreat’ of six weekly webinars. Each of the webinars included scientific presentations by the fellows, followed by breakout sessions to discuss the practical skills needed to become successful Principal Investigators in today’s scientific ecosystem.

SFARI is pleased to announce the 2021 Bridge to Independence (BTI) Award request for applications. The BTI Award program engages talented early-career scientists in autism research by facilitating their transition to research independence and providing grant funding at the start of their professorships at a U.S. or Canadian research institution.

A number of presentations will be given by SFARI Investigators at the SfN Global Connectome: A Virtual Event (January 11–13).

This issue of the SFARI newsletter includes: (1) New collaboration between SFARI and Nancy Lurie Marks Family Foundation will generate iPS cells for autism research, (2) Transition in SFARI directorship: Update, (3) Simons Searchlight new data release, (4) SFARI Gene: October 2020 data release, (5) New Autism BrainNet website has launched, (6) ASHG 2020 Virtual Meeting: Presentations by SFARI Investigators and collaborators, (7) Workshop report: SFARI workshop discusses opportunities to study maternal infection and autism risk during COVID-19 pandemic, (8) SFARI Conversation with Kevin Eggan, (9) Highlights of SFARI-funded research, (10) SFARI Supplement to Enhance Equity and Diversity (SEED) — Request for applications, (11) 2021 Bridge to Independence Award — Request for applications, (12) Past lecture: Evan Eichler, “Rare variants and the genetics of autism.”

SFARI Investigator Kevin Eggan discusses his research on induced pluripotent stem (iPS) cells and his collaboration with SFARI to provide a detailed characterization of iPS cell lines from Simons Searchlight participants.

On July 29, 2020, SFARI convened an online workshop to explore environmental (maternal and fetal) risk factors for autism spectrum disorder in the context of COVID-19 infection.

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.

New Simons Searchlight data were recently added to SFARI Base. This data release included phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, 7q11.23 duplication and variants in 29 single genes associated with autism and related neurodevelopmental conditions.