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).
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.
Dysfunction in SCN2A, which encodes the neuronal sodium channel NaV1.2, is strongly linked to autism spectrum disorder (ASD). Building on the recent finding that multiple ASD-associated mutations in SCN2A dampen or eliminate NaV1.2 channel function, the Bender Lab is now exploring how loss of SCN2A function affects developing and mature neuronal networks in mouse models.
New Simons VIP Phase 2 data have recently been added to SFARI Base. This data release includes phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, and mutations in the following single genes: SCN2A, GRIN2B, PACS1, PPP2R5D, ADNP, MED13L, STXBP1, HIVEP2 and SYNGAP1.
Presentations that will be given by SFARI Investigators at the 2017 International Meeting for Autism Research (IMFAR) in San Francisco (May 10-13) are highlighted.