Rare diseases affect one million Canadians, mostly children. They often cause significant disability, and more than half lead to early death. Yet we understand very little about these devastating disorders, and can offer targeted treatments for almost none.
Dr. Kym Boycott, Canada Research Chair in Rare Disease Precision Health, is using genomics and large-scale data-sharing to improve how we diagnose and treat rare diseases. She and her research team are uncovering the molecular mechanisms that underlie rare diseases and identifying targeted therapies through laboratory tests and experiments. Ultimately, their research will help families living with rare diseases live their best lives.