“I walk through the Hospital for Sick Children every morning before I come to the laboratory, and I do that to remind myself why I’m doing the research. I see the families, I see the kids. And so the questions that we’re addressing now are applied in a way: we’re trying to answer questions for the doctors and for the families that come to this hospital.”
Geneticist Stephen Scherer is the Director of the Human Genome Centre at SickKids Hospital, and that environment gives him extra motivation in his research. Scherer, also a professor of molecular genetics at the University of Toronto, has been sequencing the human genome since his early career.
His research uncovered a feature seen in every known human genetic disease, and it all started by sequencing a single human chromosome as part of the Human Genome Project.
“Very early in my career, I was involved in the Human Genome Project, and we were mapping and sequencing human chromosome 7s,” says Scherer. “So that’s about 5% of the human genome.
“Probably our biggest discovery came in 2004 when we found a new type of genetic variation in human DNA, and we called it copy number variation. What that means is, we found that some genes are present in only one copy, instead of the typical two copies, or three copies, or in some cases no copies in an individual’s DNA. These copy number variations can lead to things like autism and schizophrenia.”
That finding disrupted the conventional thinking that most genes come in pairs, one copy on each matched pair of chromosomes. It demonstrates how common it is for the genome to duplicate or lose genetic material.
“It opened up a whole new window, and we’ve now found these CNVs, or copy number variations, are found in every different type of human genetic disease that has been documented so far,” adds Scherer.
But when studying the genome, Scherer tries to understand what the genetic blueprint means both in disease and in health. His team is now working to sequence the DNA of tens of thousands of Canadians to get the data they need. In parallel, he is always thinking about the directions that he wants to take the science, and the ethics that shape where the science should steer away from; these are twin tasks that he places equal importance on.
Charting the right course is ultimately what will help bring families the answers they need.