Canada’s Champion of Genetics

By Philip Jenkins

Although uOttawa pediatrics professor Dr. Alex MacKenzie has just been named a 2013 Champion of Genetics by the Canadian Gene Cure Foundation (CGCF), he could also be recognized for his humility.

“I wouldn’t say that my career has been characterized by a huge number of triumphs,” he says. “I’ve been around when exciting things have happened, but I have no risk of the Nobel Committee calling me anytime soon.”

However, when Board member Dr. Anny Fortin announced the award, which is given to five scientists across Canada, she said that “Dr. MacKenzie’s involvement as a research scientist, medical doctor, advocate and spokesperson for the cause of spinal muscular atrophy makes him one of the greatest examples of knowledge translation in Canada.”

When the 2013 award-winner and principal investigator at the Apoptosis Research Centre, CHEO Research Institute, first decided on a medical career path, he did not initially choose a clear destination. Dr. MacKenzie says he was “an indifferent undergraduate” who wanted to move out of the laboratory so that his career would involve human contact.

His field finally revealed itself during his pediatric residency in the intensive care unit at CHEO, when Dr. MacKenzie treated a girl born with spinal muscular atrophy (SMA), a fatal neurodegenerative disease whose sufferers rarely survive past the age of two.

“I was beguiled by this little girl, who actually died a year after I saw her, and it just lodged in my brain. I decided that for a life’s work, you could do worse than to pursue the gene, and possible therapies, for this disorder.”

Dr. MacKenzie says that in the past, children born with SMA would die within 18 months to 2 years, but that thanks to new treatments, they are now living up to 5 years.

“The motor neurons that connect the spinal cord and the brain die off, and when muscles become disconnected from the central nervous system, they start atrophying or wasting away, including the muscles involved in breathing, so these are bright, alert kids who die of respiratory failure or suffocation. It’s not painful, but it sure is poignant.”

His research team at CHEO has focused on trying to treat these inherited disorders and diseases with no known therapies, known as orphan diseases, by identifying the gene responsible and then finding either current drugs that work to modify the gene and treat the disorder, or experimenting with new drugs that show promise.

“When we find a drug that will alter the activity of a gene that may treat one of these disorders, for us, that is the ‘eureka’ moment.”

Dr. MacKenzie’s award paved the way for a $90,000 grant from CGCF and the Canadian Institute of Health Research for one of his team’s researchers, Dr. Faraz Farooq, who will use these funds to further assess whether certain drugs already in use today will help patients with SMA.

“When Dr. Farooq arrived about five years ago, he singlehandedly started working on this SMA problem, and came up with two approaches for possible therapies. He’s moved up from getting his PhD to being an independent scientist in a remarkably short time.”

Dr. MacKenzie divides his time between teaching uOttawa graduate students, writing, lecturing internationally, doing clinical work with CHEO patients, and guiding his research team at CHEO.

“I love my job. You’re trying to figure out how to thwart bad things from happening and you’re constantly challenged to do it better. And that’s what you’re judged on, your ability to do clever and productive experiments that generate worthwhile results, using your brain and the brains of smarter people who work for you. I can’t recommend it highly enough. I feel I am a very lucky person.”

Main photo:
Dr. Faraz Farooq and Dr. Alex MacKenzie at the Children’s Hospital of Eastern Ontario. Photo: Dwayne Brown