TAO2: A Novel Autism Spectrum Disorder Risk Gene
Screening for repurposed drugs that rescue our preclinical TAO2 autism spectrum disorder models, and working to move these into Phase I clinical trials.
Through whole genome sequencing of individuals with autism spectrum disorder (ASD), TAO2 has been identified as a new risk gene. The goal of this project is to use TAO2 as a model of ASD, and identify how genetic mutations increase the risk of ASD.
We established a new pre-clinical animal genetic knockout (KO) model of TAO2 using behavioural testing, electrophysiology and high-resolution cellular imaging. We discovered that TAO2 KO mice display ASD-associated behavior and impairments in synaptic communication between neurons in the brain. We also generated human TAO2 KO neurons to confirm that these cellular findings extend to a human preclinical model of ASD. Ultimately, we are screening for drugs and compounds that reverse the synaptic and behavioral defects in our preclinical models, with a focus on repurposed drugs to allow for a fast-track to the clinic.
|Jason Lerch, PhD||Senior Scientist, Neurosciences & Mental Health, The Hospital for Sick Children|
|Stephen Scherer, PhD, FRSC||Director, The Centre for Applied Genomics, The Hospital for Sick Children; Director, The McLaughlin Centre for Molecular Medicine, University of Toronto|
|Froylan Calderon de Anda, PhD||Group Leader, Neuronal Development, Centre for Molecular Neurobiology Hamburg|