Phenotypic data from 328,973 participants enrolled in SPARK, including 132,138 individuals with ASD, are now available to approved researchers. Genomic data also is available for 116,693 SPARK participants, specifically 106,744 (44,304 ASD) with whole exome sequencing, and 12,519 (3,575 ASD) with whole genome sequencing. A total of 2,570 individuals have both.
A SFARI initiated and funded reanalysis of previous studies reveals consistent biological signals in the human microbiome and other physiological signals associated with autism and highlights the need for long-term studies to determine autism’s underlying causes.
On January 30–31, SFARI convened its first annual meeting of the SFARI Sex Differences Collaboration (SSDC). Funded in 2021, the SSDC collaboration consists of five groups of researchers who seek to understand the male overrepresentation in autism spectrum disorder (ASD) diagnoses; how this comes about could hold important insights into the nature of autism itself.
Earlier this year we announced here that this summer we would be issuing a request for applications (RFA) for the Genomics of ASD grants. However, as we have occasionally done in the past, this summer the SFARI science team will regroup to evaluate our entire grant portfolio to identify gaps where SFARI funding is likely to create the most impact. To allow sufficient time for these activities we have decided to postpone the 2023 Genomics of ASD RFA.
This issue of the SFARI newsletter includes: (1) endy Chung appointed as chief of the Department of Pediatrics at Boston Children's Hospital, (2) SFARI workshop on sensory differences in autism, (3) 2022 Genomics of ASD awardees announced, (4) SFARI at INSAR 2023, (5) Highlights of SFARI-funded research, (6) 2023 Human Cognitive and Behavioral Science — Request for applications, (6) Simon Foundation Undergraduate Research Fellowship in Neuroscience (SURFiN), (7) 2023 Cross-Species Studies of ASD — Request for applications.
On February 10, 2023, SFARI hosted an in-person meeting focused on measuring sensory system function in humans with autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDD).
In a mouse model of fragile X syndrome, Emily Osterweil and her colleagues show that excessive protein synthesis drives a pathological compensatory rise in protein degradation (by the ubiquitin proteasome system), which can be targeted to correct various phenotypes including audiogenic seizures.
SFARI is pleased to announce that it intends to fund 15 grants in response to the 2022 Genomics of ASD: Pathways to Genetic Therapies request for applications.
The Simons Foundation is now accepting applications from undergraduate students to participate in the Shenoy Undergraduate Research Fellowship in Neuroscience, or SURFiN, for the 2023–2024 academic year. The program’s goal is to spark and sustain interest in neuroscience among undergraduate students from diverse backgrounds underrepresented in neuroscience research. SURFiN is a joint initiative from the Simons Collaboration on the Global Brain (SCGB), the Simons Collaboration on Plasticity and the Aging Brain (SCPAB) and the Simons Foundation Autism Research Initiative (SFARI).