Kym Boycott has been referred to as one of Canada’s top DNA detectives, but like many a sleuth, it’s the unsolved cases that keep her awake at night.

A neurogeneticist at the Children’s Hospital of Eastern Ontario and an associate professor in the Faculty of Medicine at the University of Ottawa, Dr. Boycott uses molecular medicine and DNA sequencing to identify the genetic causes of sometimes deadly rare diseases among children. Her job involves bringing gene discovery to routine diagnosis and patient care.

And while she’s had plenty of success tracing the roots of some of those diseases, it’s the families she’s unable to help who sustain her motivation to keep trying.

“It’s very troubling to have families in the clinic asking questions we can’t answer,” said Boycott, one of the keynote speakers at the annual conference of the Canadian Science Writers’ Association, in Windsor, June 2 to 5.

“That’s very frustrating. Especially for families with previously healthy children who have developed a disorder and they’re degenerating. Compared to families with children born with a disorder, it’s a different level of acceptance. You can just imagine what those parents are going through. It’s horrible.”

But Boycott, the lead investigator of the Genome Canada-CIHR funded Finding of Rare Disease Genes in Canada (FORGE Canada) initiative, has made substantial progress. So far, her team has identified the genes responsible for almost 50 rare disorders, including:

• Floating-Harbor syndrome, a rare condition characterized by short stature, delayed bone maturation, language deficits, and a distinctive facial appearance;
• Nager syndrome, characterized by craniofacial and limb malformations;
• Hajdu-Cheney syndrome, whose hallmark is acro-osteolysis, or a shortening of terminal phalanges, and generalized osteoporosis;
• Weaver syndrome, which consists of generalized overgrowth, advanced bone age, and intellectual disabilities; and
• Joubert syndrome, characterized by a distinctive brain malformation, developmental delay, breathing abnormalities and abnormal eye movements.

There are about 200 disorders in all that Boycott is trying to identify. A large part of her work involves using a technique called exome-sequencing, a method that involves selectively sequencing the coding regions of the genome in order to identify DNA mutations associated with rare disorders. It’s a process she hopes will lead to an improved ability to prevent and treat these devastating conditions.

“Genomic technology is revolutionizing the field of genetic disorders,” she said. “By identifying these genes we can begin the work of finding new treatments and halt what we call the diagnostic odyssey.”

Boycott will deliver the lunchtime keynote address on Monday, June 4, at noon in Ambassador Auditorium, CAW Student Centre.