Exploring the genetic link to autism

Alumnus stands at the forefront of emerging genomic research


SchererOur DNA and genome sequence impact just about every aspect of our lives, from the colour of our eyes to our risk of contracting certain diseases. Waterloo alumnus Stephen Scherer (BSc ’87, DSc ’17) stands at the forefront of emerging genomic research promising to improve human health at its most elemental level. 

Scherer is one of Canada’s most acclaimed scientists – in any field. As a senior scientist at the Hospital for Sick Children in Toronto (SickKids), he’s made groundbreaking discoveries that have changed the understanding of genetic variations in the human genome.

Scherer sees genomics as a potent force in treating our most harrowing health problems.

“Many of us believe that soon every sick person, and eventually every baby born, will have their genome sequence done, and this genetic instruction book will become part of their medical record. Having the genome sequence will become a major part of the genetic family history; it can tell you about your present, your past and your future,” he says.

His journey began with a co-op work term focused on agricultural DNA and RNA viruses at Agriculture Canada. “I built on that experience with subsequent work terms, moving my way up the evolutionary ladder. It gave me the experience, confidence and network I needed,” says Scherer, who received his undergraduate degree in biology at Waterloo. “It was my Waterloo co-op experience, combined with my marks, that allowed me to do my PhD in a world-famous lab at SickKids. It was life changing.” 

When I walk through the hospital, I see the families that need answers. Genome information is used at SickKids every day to advise on life-changing treatments for kids …

Scherer went on to be part of some of the most significant genome discoveries of the last 30 years. In 2003, he was the lead scientist for the team that completed the first sequencing of human Chromosome 7. Nicknamed Canada’s chromosome, it was a significant contribution to the Human Genome Project, a $3 billion, 13-year study mapping the DNA sequence of the entire human genome.

This research led to the discovery of copy number variation, which changed the prevailing wisdom about how genes are passed on from generation to generation. It also led researchers to find genetic links to autism and developed one of the more common genetic tests for the spectrum disorder, which is estimated to impact one in every 66 Canadian children and youth aged five to 17.

“Our ultimate goal is to turn our genome research into information we can transform into diagnostic tests and new medicines,” says Scherer. “When I walk through the hospital, I see families that need answers. Genome information is used at SickKids every day to advise on life-changing treatments for kids, and also for counselling of families for future decisions.”