New data were added to SFARI Gene in April 2020. This data release included the addition of new candidate autism risk genes, new curated references of copy number variations associated with autism, as well as updated gene scoring criteria. New mouse models derived from notable autism risk genes were also added.

Phenotypic data from 230,936 participants enrolled in SPARK, including more than 90,000 individuals with ASD, are now available to approved researchers.

Catharine Rankin, Kurt Haas, Paul Pavlidis and colleagues used machine vision to find that mutations linked to ASD risk genes are associated with changes in habituation of response probability in C. elegans

David Sulzer and colleagues used conditional knockout mice of Atg7, a protein involved in autophagy, to study the effects of loss of autophagy on the structure and function of striatal spiny projection neurons, as well as on behaviors relevant to ASD.

Nael Nadif Kasri and colleagues used micro-electrode array assays to demonstrate common neuronal network phenotypes associated with genes underlying Kleefstra spectrum syndrome.

This issue of the SFARI newsletter includes: (1) SFARI Winter 2020 Pilot awardees, (2) Note to SFARI Investigators regarding COVID-19 epidemic, (3) SFARI 2019 Director awards, (4) Reminder: Limitations on using SFARI Simons Collection data sets and/or biospecimens, (5) SFARI meeting report: DYRK1A family meeting supports parents and scientists alike, (6) Conversation with SFARI Investigator Karen Parker, (7) 2020 SFARI Collaboration on Sex Differences in Autism — Request for applications, (8) Summer 2020 Pilot Award – Request for applications, (9) Highlights of SFARI-funded research.

SFARI reminds all approved Principal Investigators that the use of data sets and/or biospecimens obtained from the SFARI Simons Collection is subject to certain limitations and that these resources cannot be shared or distributed to any other researchers without prior SFARI approval.

SFARI Investigator Karen Parker discusses her preclinical and clinical research on the neuropeptides arginine vasopressin and oxytocin as potential biomarkers and treatment strategies for autism spectrum disorder.

SFARI is pleased to announce that it intends to fund 11 grants in response to the Winter 2020 Pilot Award request for applications.

Joseph Gleeson and colleagues used deep whole-genome sequencing and genotyping of sperm DNA to stratify ASD risk in offspring due to de novo mutation.