Imagine having a child, one that comes into the world healthy and happy. During the first year or so you watch them return your smile, learn to crawl and begin to utter ‘ma-ma’ and ‘da-da’, hitting these and all other developmental milestones.
And then, shortly after their first birthday, everything changes.
Your child stops making progress in social interactions with you and other loved ones. He fails to begin developing his speech and goes into screaming fits at the slightest provocation. After years of having your distressing observations dismissed as the concerns of an overly anxious parent, you arrange for a battery of thorough medical assessments.
The diagnosis is autism. It’s an answer, but not one you wanted to hear. And no one can tell you how or why he acquired the disorder in the first place.
Revolutionizing our understanding of autism
Thanks to the groundbreaking genetics research of Canada’s Dr. Stephen Scherer and the dizzying pace at which he conducts it, some parents who find themselves in this difficult situation no longer have to wait years, or even months for that matter, before getting answers.
“We now know for the first time, with definitive evidence, that genes can cause autism,” says Dr. Scherer, co-founder and director of The Centre for Applied Genomics at The Hospital for Sick Children and the University of Toronto, and director of the McLaughlin Centre, a combined $100 million initiative in genomic medicine at the University of Toronto’s Faculty of Medicine.
“We have identified six genes that, if you only have one copy instead of the typical two, you have a very high risk of being autistic – but we also have evidence that there may be over 100 different genes that can lead to autism.”
Widely considered one of the most prolific scientists of his generation, Dr. Scherer’s pioneering work led to the discovery of frequent genetic variations found in the genomes of all cells in every individual. The prevailing theory at the time insisted that, as human beings, we shared 99.9% of our DNA in common, and that those with a given disorder such as autism, inherited common mutations in the same few genes. Dr. Scherer’s discovery of frequent mutations across all cells – called copy number variations, or CNVs, shook the scientific establishment’s view that mutations were rare and occurring in only a handful of genes.
“The idea used to be that there would be common forms of DNA sequences that would predispose people to developing autism,” explains Dr. Scherer. “But in fact, what we have unveiled in the last few years using new technologies is that individuals who have autism probably have their own particular type of genes involved. In other words, they are kind of like snowflakes in a way – autism in each person is very unique and has its own genetic composition.”
The rest is history as they say and is well recorded in the scientific literature, with journals like Nature and Science – and even publications like the New York Times and Playboy – running extensive stories on his breakthroughs that have identified somewhere in the order of 100 different genes that can lead to autism.
“We built our whole program around looking where no one else wanted to look at the time, trying to identify rare individual variants,” explains Dr. Scherer.
Dr. Scherer and his collaborators went on during 2007-2010 to discover numerous disease-associated CNVs, and the corresponding disease-susceptibility genes in upwards of 10% of individuals with autism spectrum disorder. Most recently, Dr. Scherer identified a glitch in a gene that may explain why four times more males than females are affected by autism. These discoveries have led to broadly available tests facilitating early diagnostic information for thousands of families affected by autism worldwide.
Contributions and motivation
Just like in athletics, there are statistics that rank success in the research world. Over the past decade, Dr. Scherer’s work has been cited over 20,000 times in other scientists’ publications, placing him in the top 100 worldwide for scientific impact.
When seeing children being robbed of speech development – what is perhaps the most important thing that makes us uniquely human – Dr. Scherer realized he had found his calling.
“When I found out about this disorder and that it was affecting some 1 in 100 Canadians with many of the kids being seen at our hospital, I asked myself, how I could not work on this,” says Dr. Scherer.
Long-standing endeavours include the study of human chromosome 7 as a model of the chromosomal basis of disease, and building genomics infrastructure to facilitate biomedical research. He has published over 300 peer-reviewed articles and won numerous awards including the 2004 Steacie Prize in the Natural Sciences and an International Howard Hughes Medical Institute Scholarship. He holds the GlaxoSmithKline-Canadian Institutes of Health Research Endowed Chair in Genetics and Genomics is a Fellow of the Canadian Institute for Advanced Research, American Association for the Advancement of Science and the Royal Society of Canada.
Throughout his career, Dr Scherer has been celebrated by his peers and awarded for his efforts. When asked what is behind his successes, Dr. Scherer says something unexpected – failure.
“If you design your experiments to really push the scientific limits of what is known or unknown, most of them will fail,” he explains. “Yet there are many lessons to be learned from failed experiments.”
“My message to students going into medical research or general science is to only do it if it is your passion. You need to have very thick skin and be ready to fail over and over again. Failure should be momentary and motivating.”
The importance of collaboration
As an avid hockey fan, Dr. Scherer remembers Henderson's 1972 Summit goal and Crosby's 2010 Olympic goal, yet believes the most spectacular move in hockey history was Mario Lemieux's 2002 famous goal.
“Without touching the puck to assist or score, he influenced the play in such a significant way that it led to the gold medal for Canada,” explains Dr. Scherer. “These types of influences in science also occur and are as important as goals and assists in hockey.”
In some cases the discoveries will change the world; in other cases the progress will be incremental, adding data to further understand our world. Yet Dr. Scherer firmly believes it is important for researchers to remind themselves that science is ultimately about the search for truth.
“There could be nothing more noble than this, because it promises to enrich us, wealthy and poor, now and for all the generations to come.”