November 28, 2022
About 2% of Canadian children are diagnosed yearly with autism making it the most common childhood neurodevelopmental disorder in Canada. Yet there is no genetic or blood test for autism spectrum disorder (ASD), and treatment options vary widely.
A big Canadian breakthrough
Newly published research, in Cell, from Canadian researchers with Sick Kids Hospital and BC Children’s Hospital Research Institute, have uncovered 134 new genes and genetic changes associated with autism discovered in the world’s largest autism whole genomic sequencing study. This is a massive step forward to understanding how genetics influences this disorder. For example, they found that the better predictor of having multiple family members with autism is a newly discovered extremely rare genetic variant inherited from a parent.
Targeting a better understanding of autism
Like most groundbreaking research, uncovering a new class of genes didn’t occur overnight. Let’s rewind the story back to 2016, when Dr. Suzanne Lewis from the BC Children’s Hospital Research Institute started the research that influenced this new discovery.
Dr. Suzanne Lewis
Dr. Lewis was the lead researcher on the iTARGET Autism project – Individualized Treatments for Autism Recovery using Genetic-Environmental Targets. Using Genome BC’s research funding, iTARGET looked at all the genes of 688 people, including parents and kids with autism. The goal was to identify children with, or at risk for, autism much earlier and provide them with personalized treatment options using precision medicine.
“This critically important work helps significantly improve our ability to identify children with or at risk for autism much earlier and provides a framework to understand the genomics of autism in a way that will lead to more effective and personalized treatments.”
– Dr. Suzanne Lewis
Her work also investigated how the gut (microbiome), blood metabolome, proteome, whole genome sequencing and whole-body phenotype (i.e. physical changes) might be linked to the unique medical and/or behavioural features of autism. Through Genome BC’s funding of this research, Dr. Lewis has made meaningful contributions to the BC Autism Community and supported this newest discovery.
Since completing the iTARGET study, Dr. Lewis’ group has sequenced the genes of 484 patients, including 177 kids with autism and their parents. This work has been a launching point for the international Autism Sharing Initiative (ASI) funded by Canada’s Digital Supercluster. ASI brings together the world’s most ambitious efforts to create the first federated, global network for sharing genomics and clinical data to accelerate discoveries and the development of precision therapeutics in autism.
