
Peter Kind and Loren Frank discuss their work using SFARI’s genetic rat models and their views on how these models will aid autism research.

Peter Kind and Loren Frank discuss their work using SFARI’s genetic rat models and their views on how these models will aid autism research.

SFARI is pleased to announce the SFARI Explorer Awards program: an initiative designed to provide timely support to innovative, high-risk experiments relevant to our mission.

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.

SFARI hosted a Circuit Dynamics Workshop to explore the role of neural circuits in autism.

SFARI launched the Autism Rat Models Consortium (ARC) in 2022 with a group of researchers funded through the original Autism Rat Models Consortium RFA. These researchers are using rats generated with SFARI funding that carry mutations in high-confidence genes that in humans significantly increase the likelihood of developing autism and related NDD. As part of the consortium, these same rat models are being evaluated through a comprehensive behavioral phenotyping pipeline established by the Simons Initiative for the Developing Brain (SIDB).
The goal of this award is to increase use of large, publicly available data resources by supporting investigators to allocate time and personnel toward working in and publishing from these previously collected data. Applications should leverage existing publicly accessible datasets to ask new questions and extract new knowledge. Priority will be given to applications that use SFARI-supported resources, although all applications will be considered as long as data are publicly accessible at the time of application. Proposed questions should be relevant to SFARI’s mission.

SFARI would like to remind investigators to please acknowledge SFARI funding and/or the use of SFARI resources, biospecimens and data in all relevant preprints and publications.

The Simons Simplex Collection (SSC) contains genetic and phenotypic data from nearly 3,000 families with a child affected by autism.

The ASD-relevance of genes in the SFARI Gene database will be assessed according to a new scoring system called EAGLE (Evaluation of Autism Gene Link Evidence). This metric adds to SFARI Gene’s four ASD-confidence categories to provide an additional tool for assessing a gene’s specific association to ASD rather than neurodevelopmental conditions at large.

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.