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, CHAMP1, DYRK1A, HNRNPH2, PPP2R5D, SCN2A and STXBP1 single genes. SFARI can help facilitate research opportunities at these meetings by connecting investigators with families.

This issue of the SFARI newsletter includes: (1) Winter 2019 Pilot awardees announced, (2) Autism BrainNet begins distribution of new postmortem brain tissue, (3) SFARI Viewer has launched, (4) SFARI Gene: New data release, (5) Highlights of SFARI-funded research, (6) 2019 Novel Outcome Measures in ASD – Request for applications, (7) Summer 2019 Pilot Award – Request for applications.

SFARI Viewer, an online platform to visualize and analyze SFARI genomic data, was recently launched. This tool was developed through a collaboration between the SFARI Informatics team, Frameshift and the University of Utah, with the goal to facilitate data exploration and analysis from SFARI collections. These include the Simons Simplex Collection and SPARK.

Stephan Sanders and colleagues used a machine learning approach to analyze whole-genome sequencing data from more than 1,900 SSC families and found that de novo noncoding variants in distal regions of promoters confer risk of ASD.

SFARI is pleased to announce that it intends to fund 15 grants in response to the Winter 2019 Pilot Award request for applications (RFA).

New data were recently added to SFARI Gene. 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 and rat models were also added.

Autism BrainNet is now distributing frozen and fixed postmortem brain tissue from individuals with autism spectrum and other neurodevelopmental disorders, as well as neurotypical individuals, for use in research studies. Researchers from all over the world are eligible to apply.

A new, improved version of SFARI Base that streamlines and facilitates the process whereby researchers can request access to SFARI data and biospecimens as well as the submission of research recruitment requests, has launched.

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.