New phenotypic and genomic data are available from participants enrolled in SPARK. Currently available data include phenotypic information from 283,520 people, including more than 111,000 individuals with ASD, as well as whole-exome sequencing and genome-wide genotyping data from 72,262 participants; of these, 3,227 genomes and 31,641 exomes are from individuals with ASD.
Simons Searchlight will host the CSNK2A1, HIVEP2, MED13L and SETBP1 Family and Scientific Conference on Aug 4-7, 2022, in Baltimore. Basic and clinical researchers, carriers of these genetic changes and their families are invited to participate.
SFARI is pleased to announce that it intends to fund 17 grants in response to the 2021 Pilot Award request for applications.
In conjunction with the Nancy Lurie Marks Family Foundation, SFARI is releasing 30 new induced pluripotent stem cell (iPSC) lines for use in autism research.
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.
Autism BrainNet is working to digitize the Autism Celloidin Library, a unique collection of 28 celloidin-embedded, Nissl-stained brains from donors with and without autism spectrum disorder. The collection provides a unique resource for histological studies aimed at quantifying and characterizing changes in cell distribution, size and regional structure. Digitized images will be available to interested researchers upon request.
Three SFARI Investigators (current and past) have recently received prestigious prizes in the natural sciences.
SFARI is pleased to announce that it intends to fund 17 grants in response to the 2021 Genomics of ASD: Pathways to Genetic Therapies request for applications.