Researching Rare Diseases in Children

The CHEO Research Institute’s Spotlight on Research video series showcases some of their leading researchers in these priority areas.  Over the coming months we will be sharing some of these videos through the CAPHC Conversations Blog.

For more information on the CHEO Research Institute or the Spotlight on Research series, contact Adrienne Vienneau, Director, Communications and Public Relations at


Dr. Kym Boycott, a Senior Scientist and Clinical Geneticist at CHEO, talks about the impact of rare disease research by diagnosing rare disease genes. Dr. Boycott helps families and children explore their uncommon illnesses as co-leader for CARE for RARE, a nation-wide research program focusing on the important of both the diagnosis and treatment of rare diseases. 

Learn more about Dr. Boycott:

A written transcript of this video is available in French, upon request. Please email


The CAPHC team is always interested in learning more about what is happening in the paediatric health care community. If you have a program, event, website, or initiative that you would like to share with the country, email for more information.