The Rare Disease Discovery Hub is a multi-disciplinary, translational research program designed to help children affected by undiagnosed ‘mystery’ conditions by discovering the cause of their disease and then gaining an understanding of how the disease works. The Discovery Hub solves the puzzle of these rare and ultra-rare diseases, defines treatment targets, and ultimately improves outcomes for children and their families in BC.

Led by clinical immunologist, Dr. Stuart Turvey, and clinical geneticist, Dr. Anna Lehman, the Hub is composed of a multi-disciplinary team of clinicians and scientists focused on amplifying ongoing rare disease research by applying cutting edge research approaches to generate insights into disease mechanisms.