SFARI | Author: jesse

SFARI 2022 Pilot awardees announced

SFARI is pleased to announce that it intends to fund 16 grants in response to the 2022 Pilot Award request for applications.

SFARI workshop highlights challenges and best practices for induced pluripotent stem (iPS) cell models in autism research

SFARI hosted a virtual workshop on March 14 and 18, 2022, to discuss the best practices for the development and use of induced pluripotent stem (iPS) cell models for autism research, including iPS cells generated from SFARI autism cohorts.

New DYRK1A and GRIN2B zebrafish models added to SFARI resources

New zebrafish lines with mutations in the high-confidence autism risk genes DYRK1A and GRIN2B have been added to SFARI resources.

Gene expression patterns that underlie functional brain activity are disrupted in autism

Genevieve Konopka and colleagues coupled brain imaging with measures of gene expression to reveal that gene expression patterns in the cortex that typically underlie functional brain activity in neurotypical individuals are affected in people with autism.

A man on a computer with his grandparents

SPARK August 2022 update: New phenotypic and genomic data available

Phenotypic data from 296,307 participants enrolled in SPARK, including 117,203 individuals with ASD, are now available to approved researchers. Genomic data (whole-exome sequencing and genome-wide genotyping data) are also available for 81,172 SPARK participants. Of these, 3,568 genomes and 34,164 exomes are from individuals with ASD.

Clinical trial of arbaclofen for 16p11.2 deletion has launched

Clinical Research Associates, L.L.C., an affiliate of the Simons Foundation, has recently launched a randomized controlled trial to test the safety, tolerability and efficacy of arbaclofen in 16p11.2 BP4-BP5 deletion syndrome.

New SPARK study identifies a novel group of inherited genes of moderate effect and shows their links to other behavioral conditions

In a series of articles published in the journal Nature Genetics, researchers used data from the SPARK research cohort, which was created to advance our understanding of the complex genetics of autism and includes genetic data from nearly 43,000 people with autism. The findings show differences in genetic influences among people all along the autism spectrum.

A bidirectional switch affecting phosphorylation of Shank3 influences homeostatic synaptic plasticity

Gina Turrigiano and colleagues showed that the phosphorylation state of the autism-associated synaptic scaffold protein Shank3 can bias synapses toward upward or downward homeostatic plasticity.

Decoding of emotional vocal cues by the auditory cortex correlates with social communication abilities in children

Vinod Menon and colleagues showed that a subregion of the auditory cortex decodes emotional cues in a communication partner’s voice and that this predicts social communication abilities in children.

SFARI July 2022 announcements: Bridge to Independence fellows announced, Simons Searchlight data release and more

This issue of the SFARI newsletter includes: (1) SFARI 2022 Bridge to Independence fellows announced, (2) Simons Searchlight: July 2022 data release, (3) Event: How emotions shape our memories, (4) Highlights of SFARI-funded research, (5) 2022 Genomics of ASD: Pathways to Biological Convergence and Genetic Therapies – Request for applications, (6) SFARI Supplement to Enhance Equity and Diversity (SEED) — Request for applications.