Looking for a needle in a haystack – tackling rare diseases: an interview with Kym Boycott

Kym Boycott is currently a Clinical Geneticist at the Children's Hospital of Eastern Ontario (CHEO) and a Senior Scientist at the CHEO Research Institute, in Canada, where she tries to better understand mechanisms of rare genetic diseases and improve the management of pediatric patients with these conditions. Her interest in Medical Genetics dates back to her undergraduate studies at Queen's University in Kingston, when she was captured by Dr Patrick MacLeod's lectures on this subject. Thus, she embarked on a PhD in Medical Genetics and joined Dr Torben Bech-Hansen's lab at the University of Calgary, where she investigated the cause of a rare genetic form of vision loss. After completion of her PhD, she attended the medical school program at the University of Calgary and obtained her MD in 2005. Having both a PhD and MD allowed her to have a translational perspective from the beginning of her career. At CHEO, Kym and her group aim to bridge basic and clinical knowledge to quickly diagnose – by using next-generation sequencing – and improve the management of rare diseases, also known as orphan diseases. Kym is co-leader of the Canadian Rare Diseases Models and Mechanisms (RDMM) project, the goal of which is to connect basic scientists who work with animal models to clinician investigators studying rare diseases, thereby catalyzing investigation of disease mechanism and in some instances facilitating therapeutic configuration for rare diseases. In this interview, Kym shares with us her unique experience and expertise, fighting on the front line against rare diseases.