Autism: Genomes to outcomes

Autism is a developmental disorder that appears in the first three years of life, and affects the brain\’s normal development of social and communication skills.

The Challenge

  • Autism is one of the world’s most urgent public health challenges
  • Around one in 120 newborns is likely to have autism spectrum disorder (ASD), making it more common than type 1 diabetes, childhood cancer and cystic fibroses combined
  • The cost of treating autism is some $35 billion annually worldwide
  • Genes are the most likely culprit in causing autism, whether directly or indirectly, in upwards of 80-90% of individuals with ASD

The Research Solution

  • Drs. Stephen Scherer, Peter Szatmari and their team at The Hospital for Sick Children are using a $9.9 million LSARP award to help discover and characterize all of the genes involved in autism
  • This ground-breaking work will mark Canada’s contribution to an ambitious international initiative that aims to sequence and analyze the genomes of 10,000 people with autism spectrum disorder.
  • This work will help to facilitate early diagnoses, better medical management and individualize approaches to ASD treatment
  • By discovering all the autism rick genes, studies of environmental influences in ASD will be possible


  • Numerous disease susceptibility genes have already been discovered and other genetic factors underlying autism have been defined
  • Recently, Dr. Scherer and his team discovered that a number of autism cases are linked to a gene found on the X chromosome, helping to explain why boys are four times more likely than girls to develop ASD
  • Current thinking is that there is over 100 different genes involved in autism, with 15% of those identified to date
  • The hope is that this information will help the development of drugs to treat autism

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