On January 26, 2018, SFARI held a workshop to discuss the use of zebrafish in autism research. Experts in both rodent and fish models discussed key issues in the field, including zebrafish mutant construct validity, the visualization of circuit development and function, and high-throughput phenotyping and pharmacological screens for translational opportunities.
SFARI held its thirteenth science meeting April 8–12, 2018. SFARI investigators, collaborators and foundation staff came together to discuss recent findings in autism genetics, molecular and system-level mechanisms, and clinical studies. In addition to keynote and session presentations, two panels convened investigators to discuss the current state of autism genetics research and the biology of SCN2A, a high-confidence autism risk gene.
SFARI Investigators and SFARI science staff will be giving a number of oral presentations at the International Society for Autism Research (INSAR) 2018 Annual Meeting in Rotterdam, Netherlands (May 9-12).
Haploinsufficiency in SCN2A is among the most common risk factors for autism spectrum disorder (ASD). Using Scn2a heterozygous mice, the Ahituv lab will utilize CRISPR activation (CRISPRa) technologies to upregulate Scn2a expression and assess whether synaptic function deficits can be rescued. This work will provide insights into the therapeutic potential of CRISPRa-mediated gene therapy to treat ASD resulting from Scn2a loss-of-function variants and potentially other haploinsufficient genetic mutations.
New Simons VIP Phase 2 data were recently added to SFARI Base. This data release included data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs and mutations in the following single genes: ADNP, ASXL3, DYRK1A, FOXP1, GRIN2B, HIVEP2, MED13L, PACS1, PPP2R5D, SCN2A, SETBP1, STXBP1 and SYNGAP1.
Devanand Manoli’s group has developed tools to determine how mutations in individual genes cause specific deficits in social attachment in prairie voles. In this project, they will generate voles with mutations in SCN2a, which has been highly correlated with ASD, and determine the patterns of social attachment deficits in these animals; then, they will manipulate neurons expressing OXTR to determine if modulation of their activity can ameliorate deficits in attachment behaviors resulting from loss of SCN2a function.