Focus on Genetics Research

"Many of the patients participating in our research program do not have a clear diagnosis and that's something that's very upsetting to most families. Parents want to know exactly what's going on with their children and why it's happened."

— Dr. Kym Boycott

Genetic disorders are individually rare but collectively frequent, affecting at least 500,000 children in Canada. The unique gene sequence for thousands of rare disorders (sometimes called orphan diseases) is a labyrinth mystery, but CHEO’s Dr. Kym Boycott is leading an international team of researchers that is taking basic science and making a substantial impact on knowledge translation in clinics around the world.

From the Bench

A large network of Canadian doctors, scientists and informaticians called FORGE (Finding of Rare Disease Genes), led by Dr. Kym Boycott at CHEO, are unraveling the complex genetic makeup behind rare diseases by using next-generation sequencing: a new technology where millions of tiny pieces of DNA are simultaneously read and single base-pair changes are analyzed within days. The rapid turnaround and minutiae detail included is remarkable.

The FORGE team has already successfully discovered 21 disease genes since the announcement of this research program by Genome Canada, Canadian Institutes of Health Research and the federal government in February 2011. Dr. Boycott and team have published in multiple high impact scientific journals including the American Journal of Human Genetics and Human Mutation , for discovering the genes responsible for rare disorders such as Floating Harbor syndrome, Joubert syndrome, Weaver syndrome, and Hajdu Cheney syndrome, to name a few. This research will lead to more accurate diagnosis and preventative management for rare genetic diseases, as well as provide clues for developing definitive treatments.

From the Bedside

Dr. Boycott also leads the Neurogenetics clinical program at CHEO, where weekly she sees children suffering from severe and inexplicable symptoms. These families need answers.

Identification of disease genes is only the first of many essential steps toward the improvement of the lives of affected children. 2011 set the stage for planning the Canadian CARE for RARE genetic diseases program, a multi-site research effort to be co-led by Dr. Boycott and Dr. Alex MacKenzie from the CHEO Research Institute to accelerate gene discovery and bring therapies to the clinic to improve patient care. Their goal is to lead the charge for exploring pre-clinical therapies using drug screening and other technologies to effectively treat rare disorders identified by FORGE.

The CARE for RARE program will also develop high-throughput and cost-effective genetic tests that will facilitate earlier and more precise diagnoses for Canadian families thereby reducing patient complications and facilitating more accurate genetic counselling to family members.

Congratulations, Dr. Boycott and team on your many, meaningful discoveries in 2011.