
Benjamin Neale is an associate professor in the Analytic and Translational Genetics Unit at Massachusetts General Hospital, where he directs the Genomics of Public Health Initiative.

Benjamin Neale is an associate professor in the Analytic and Translational Genetics Unit at Massachusetts General Hospital, where he directs the Genomics of Public Health Initiative.

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 10 Director Awards were awarded in 2019. These projects include, but are not limited to, studies that aim to enhance existing SFARI-sponsored cohorts and collections, generate novel resources (e.g., animal models) or did not fit into an existing investigator-initiated request for applications.

This issue of the SFARI newsletter includes: (1) 2020 SFARI Collaboration on Sex Differences in Autism — Request for applications, (2) New changes implemented to SFARI Gene, (3) 2019 Bridge to Independence Award fellow, (4) SFARI funds to support diversity at Gordon Research Conferences, (5) SFARI meeting report: Seeing through a forest of SCN2A gene variation, (6) SFARI meeting report: Bridge to Independence fellows meeting highlights research findings and plans of the next generation of SFARI autism scientists, (7) Highlights of SFARI-funded research, (8) 2020 Bridge to Independence Award — Request for Applications, (9) Summer 2020 Pilot Award – Request for Applications, (10) Past lecture: Jason Lerch, “Autism, Autisms or Neurodevelopmental Disorders?”

SFARI has recently implemented a number of changes to SFARI Gene, including modification of the gene scoring, copy number variant, animal models and protein interaction modules. Curation of the human gene module will continue as before.

On August 2–3, 2019, people from around the world met in Seattle, Washington, to review recent findings about mutations to the sodium channel encoded by SCN2A. Organized by the FamilieSCN2A Foundation, the meeting hosted scientists as well as families of people affected by SCN2A mutations.