Autism Spectrum Disorder

The autism spectrum disorder (ASD), characterized by social and communication challenges and a pattern of repetitive behaviours and interests, are lifelong neurological conditions that profoundly affect development and life experience. At an estimated prevalence of 1 in 110, the ASDs are among the most common developmental disorders. The immense emotional and financial pressures ASD exerts on families and other caregivers, as well as the often-reduced quality of life associated with the disorder, makes a strong case for concentrated, multidisciplinary efforts aimed at improving outcomes and understanding causes.

Our project aims to characterize the genetic basis of neurobiological vulnerability to ASD, to better understand variation in brain and behavioural development in affected individuals. State-of-the-art ‘deep sequencing’ techniques will be used to identify specific ASD-associated variants across the genome. The effects of these variants on brain development and connectivity will be assessed in neuroimaging studies of children with ASD. We will also examine the clinical utility of these variants in predicting ASD diagnosis, developmental course, and long-term outcomes in persons with ASD, taking advantage of rich longitudinal data from ongoing clinical studies. We also anticipate that identifying ASD susceptibility genes will help pinpoint molecular pathways for the development of biologically-based therapeutics.

We are committed to working with key stakeholders (including persons with ASD and parents, clinicians, health and policy decision-makers, and industry partners) to ensure that these discoveries are meaningful to families and society as a whole, so that we can optimally capitalize on new genomic advances and deliver them to the broader community in the most effective way. Stakeholder workshops and other ongoing communication strategies will be aimed at sustained and meaningful engagement of all partners in this knowledge translation process.

Project proposal summary

Team Leads

Lonnie Zwaigenbaum
University of Alberta

Stephen Scherer
University of Toronto