Dr. Helen Rankin Willsey
Identifying phenotypic convergence among autism spectrum disorder associated genes in Xenopus tropicalis using CRISPR/Cas9. I am interested in understanding how Autism Spectrum Disorder (ASD)-associated genes function during neurodevelopment. Despite the genetic heterogeneity of ASD, several lines of evidence suggest that ASD-associated genes share common molecular underpinnings. To identify these common mechanisms, we leverage CRISPR/Cas9 genome editing with the diploid frog model Xenopus tropicalis. Due to the speed of frog development, Helen can rapidly study the loss of function phenotype of many ASD genes in parallel. Specifically, we inject Cas9 protein and a single guide RNA (sgRNA) against an ASD gene at the two-cell embryo stage, generating animals in which exactly half the body (separated by the midline) is mutant, allowing for direct comparison of mutant and control cells in the same animal. We use a variety of techniques to identify ‘convergent phenotypes,’ including RNAseq, in situ hybridization, and immunostaining. In this way, My work is aimed at identifying phenotypes most relevant to ASD pathology to provide a path forward for understanding the molecular mechanisms underlying ASD.
School of Medicine
University of California, San Francisco
San Francisco, CA
Web Page: http://profiles.ucsf.edu/helen.willsey