Kym Boycott, M.D., Ph.D., FRCPC, FCCMG, is a Professor of Pediatrics at the University of Ottawa in Canada, where she is a clinical geneticist at the Children’s Hospital of Eastern Ontario (CHEO), Chair of the Department of Genetics, and a Senior Scientist at the CHEO Research Institute. Prof. Boycott is a Tier 1 Canada Research Chair in Rare Disease Precision Health whose research program bridges clinical genomics to basic research and is focused on understanding the molecular pathogenesis of rare diseases to improve patient care and family well-being. She leads the national Care4Rare Canada Consortium, established in 2010, integrating genomic and other ‘omics technologies to improve our understanding of rare diseases, focusing on solving the unsolved and most difficult rare diseases. In 2013, Prof. Boycott co-established the Canadian Rare Diseases: Models & Mechanisms Network. The network aims to facilitate connections between clinical investigators discovering new genes and basic scientists who can analyze equivalent genes and pathways in model organisms. She has made significant strides towards advancing the international rare disease agenda in her capacity as the inaugural Chair of the Diagnostics Committee of the International Rare Diseases Research Consortium, member of the Global Alliance for Genomics and Health, and member of the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease.