Tag: SCN2A

SFARI spring 2018 science meeting discussed latest developments in autism research

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.

Development of CRISPR activation therapeutics to rescue SCN2A function

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.

Understanding the neurobiology of attachment deficits in ASD

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.

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