Skip to main content
McMaster University Menu Search

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.

Collaborators

Picture Name Organization
Jason Lerch, PhD Picture Jason Lerch, PhD Senior Scientist, Neurosciences & Mental Health, The Hospital for Sick Children
Stephen Scherer, PhD, FRSC Picture 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 Picture Froylan Calderon de Anda, PhD Group Leader, Neuronal Development, Centre for Molecular Neurobiology Hamburg

Funders

Impacts

Karun Singh

Karun Singh

Principal Investigator