May 13, 2026
A newly identified genetic pathway linked to autism spectrum disorder could help scientists better understand the condition’s core social and behavioural traits, according to a major Canadian-led study published Wednesday in the journal Nature.
Researchers at Toronto’s Hospital for Sick Children found that a non-coding gene, known as PTCHD1-AS, on the X chromosome was associated with autism in males who carried small deletions in the gene.
“We’ve known for many years now that genetics plays a key role in the development of autism spectrum disorder or autism,” Stephen Scherer, chief of research at SickKids, said in an interview with CTVNews.ca, adding that the study followed more than 10,000 families over 15 years.
Scientists have already identified around 100 genes linked to autism, but most of them are protein-coding genes, meaning they provide instructions for making proteins in the body and brain.
They are also associated with a broad range of developmental and medical conditions, including intellectual disability, epilepsy and ADHD.