Sheila Riazi, MSc, MD, FRCPC

In my leadership role as Director of the Malignant Hyperthermia Investigation Unit at the Toronto General Hospital, the only unit of its kind in Canada, I have focused my efforts on malignant hyperthermia (MH) from clinical, research and educational perspectives. MH is a very rare disease and not many physicians or trainees encounter it during the course of their clinical practice or medical training. Our MH laboratory/clinic is a combined diagnostic and research laboratory for performing contracture testing for biopsies and assessment, and for providing genetic counselling and the testing of at-risk individuals. With access to one of the largest repositories of MH patients in the world, our unit is has a unique opportunity to conduct research in MH, as well as collaborate with various scientists.

Our MH-related projects include, but are not limited to:

• Epidemiologic characteristics of MH susceptible patients, as well as MH reaction.
• MH/CCD patients RYR1 genotyping and identification of other genes important to MH through utilization of technologies like next generation sequencing (NGS) and whole exome sequencing (WES).
• Investigation of bioenergetics and mitochondrial function in MH patients with, and without, MSK symptoms using MR-spectroscopy technology.
• Studying calcium movement and metabolomics profiling in MH patients to explore the phenotypic differences among MH susceptible patients.