Dr. Boycott’s research bridges clinical medicine with basic science, focusing on understanding the molecular basis of rare genetic diseases while integrating genome-wide sequencing into routine clinical care. She is internationally recognized for her leadership of the Care4Rare Canada Consortium (www.Care4Rare.org): to date, Care4Rare (together with its predecessor, FORGE Canada) has identified a genetic diagnosis for 400 rare diseases, discovered 135 new disease genes, and provided a diagnosis for more than 1500 patients and families. These diagnoses and discoveries were primarily made via whole-exome sequencing (WES), but many rare genetic diseases remain unsolved following WES. Therefore Care4Rare is now looking beyond the exome, using patient engagement (e.g., www.RareConnect.org), global data sharing (e.g., www.matchmakerexchange.org) and novel genomic approaches (e.g., whole-genome sequencing, RNA sequencing, and metabolomics) to understand the molecular basis of rare diseases. While Care4Rare and others have demonstrated the diagnostic utility of genome-wide sequencing for rare disease, it remains extremely difficult to access in Canada. Thus, Care4Rare is working with ministries of health on how to best implement of genome-wide sequencing into the diagnostic pathway for rare disease, in order to maximize its clinical utility and cost-effectiveness.