Only a few extraordinary individuals are named Nobel-class citation laureates by Thomson Reuters. Dr. Stephen Scherer, a leading researcher at the Hospital for Sick Children’s Centre for Applied Genomics, is one of those special few predicted to win the Nobel Prize in Physiology or Medicine this year. His work, regardless of today’s results, has already fundamentally changed the way we view genetic variation and its applications to various diseases such as autism. 

In this interview with The Varsity, Scherer discusses how he became one of the top leaders in his field.

The Varsity: What made you want to get into science as a career?

Stephen Scherer: I’ve always liked science. When I was a kid… I was interested in many different things. I was involved in many sports and athletics, and I liked all my courses. But I took a course in grade 11 where I read the book by James Watson called The Double Helix, and that really caught my attention. So I continued in grade 13 to focus on science and decided I would pursue my undergraduate degree in science. I realized I wanted to go into genetics at the University of Waterloo in my co-op program. It was at that time that they started to discuss in the scientific literature about the Human Genome Project. When I applied to graduate school, I looked for internationally acclaimed human genetics departments. I interviewed across Canada, and the University of Toronto was the place to be clearly.

TV: What was your undergraduate experience like?

SS: In retrospect, I loved my co-op work terms, but I didn’t like my courses until fourth year, when I got to focus in on genetics. If I could do it again, I would try to take more of a generalized approach and take more statistics for sure because I use it all the time now. Generally speaking, I didn’t do well in my first couple of years because it wasn’t interesting to me, but when I was in my third and fourth year, I was at the top of my class.

TV: What is it about your field of research that makes you so passionate about it?

SS: Well, genetics is information science that has been shaped by evolution over millions of years. So, as I said earlier, I love the technology, I love genetics, and I love history. Actually, the genomic studies that I do kind of captures all three of those. It is a very competitive field, and I’m a very competitive person… so it’s great to be able to compete with my brain as opposed to my muscles… I couldn’t imagine being in a better field right now.

TV: What is copy number variation, and how is it applicable to treating autism?

SS: It’s actually really simple — you develop from a sperm cell and an egg cell, and you’ve got one set of chromosomes from each of them. Your genome has about 30,000 protein coding genes. Up until our papers in 2004, it was thought that every gene was present in two copies — one from mom and one from dad. So then we found out, using a new technology at the time called micro arrays, that in fact this is not the case. In fact, there’s a whole new form of genetic variation called copy number variation that showed that some genes were present in zero, one, or three copies. So there was a lot more gene-based variation in the genome of all of us — everyone. We had seen this case in specific cases, but we didn’t know it was in every genome. So, that was the seminal discovery that changed the way we looked at genetic variation. We found out later that there were gene copy variants of very specific genes in neurons, [which] can lead to autism. And that’s what we showed — about seven per cent of children who have autism have deletions of specific genes that are involved in making proteins in the brain.

TV: What was your reaction to your nomination for the Nobel Prize in Physiology or Medicine?

SS: I got an email about three weeks ago, and I read my emails pretty quickly now because I get about 300 a day. I almost deleted it, but when I read it closer I emailed them back. I found out I was in the “Hall of Laureates.” About 25 per cent [of those in the Hall of Laureates] have gone on to win the Nobel Prize, so it’s a big thing. I almost dropped off my chair when I read that. 

TV: Where do you envision your field [and] research in the next decade?

SS: We just [returned] from a meeting with clinician scientists, and they’re all using the copy number variation data right now. Essentially, thousands of children every year get a diagnosis of autism, and they run these gene chip arrays, and we can find out what type of autism they have. Then, if we can find specific genetic changes, we can adjust their clinical management. Also, more recently we’ve been testing diagnosis of autism in children before age four, which is still difficult. Then, we can track the family history and use it for an early diagnosis and management. It’s very early on, but it’s already a standard diagnostic tool for autism, and we expect new medicine to be developed 10 or so years from now.

TV: What advice can you give to young, aspiring researchers?

SS: A scientific career is a tough career. If you’re interested [and] it’s your passion — you should make it work. The life of a scientist is spectacular once you get established because you get to think all day and pursue your interests. But it’s not an easy career because it takes a long time to get there. So, if you want to do it, things will work out. And keep your marks high. 

This interview has been edited and condensed for clarity and length.