e million Canadians suffer from a rare disease. In Dr. Bill Gibson’s lab at BC Children’s Hospital, scientists are studying rare mutations and their effects on the human body. Their efforts are helping doctors care for children with rare diseases and revealing the origins of more common health conditions.
In a study recently published in Diabetes by Dr. Gibson and PhD student Chi Kin Wong, one patient’s rare mutation has led to the discovery of two proteins that help prevent diabetes from developing. Wong talks about how this research could lead to new treatments for diabetes and what rare diseases can teach us about how the human body works.