Canadian discovery could speed diagnosis and care for autism

NeuroDevNet (NCE)


A Canadian-led study supported by NeuroDevNet promises new hope for diagnosing and treating autism early enough to make a difference. In 2013, scientists sequenced the DNA of 32 children with autism and their families to provide a definitive look at the genetic underpinnings associated with the disorder. The study went well beyond standard genetic testing, which looks at just 2% of a person’s DNA, to identify autism-related gene changes in half of the families, as well as four new autism risk genes. Discovery magazine cited the study as one of the top 100 scientific discoveries of 2013. Autism Speaks, a partner in the study, named it the #1 advance in autism research that year.

In the future, results from whole genome sequencing could highlight potential molecular targets for pharmacological intervention, and pave the way for individualized therapy in autism. It will also allow for earlier diagnosis of some forms of autism, particularly among siblings of children with autism where recurrence is approximately 18%.Stephen Scherer, Co-lead of NeuroDevNet’s Autism Spectrum Disorder Research Project