John James Mitchell

Dr. John J. Mitchell is a pediatric endocrinologist and biochemical geneticist at the Montreal Children’s Hospital and an associate professor at McGill University. He specializes in the treatment of inborn errors of metabolism.

Dr. Mitchell graduated from the University of British Columbia in 1998 and completed fellowships in pediatric endocrinology (McGill University 2001-2003) and genetic metabolic medicine (Children’s Hospital, Westmead, Sydney, Australia 2003-2004).

His area of expertise is the diagnosis and treatment of orphan disease. He has served as principal investigator on several clinical trials on enzyme replacement in lysosomal storage disorders, co-factor therapy on phenylketonuria and gene therapy in glycogen storage disease and Hunter syndrome. He has an active investigator driven research portfolio with a special interest in biomarkers and mechanism of disease. Dr. Mitchell has published over 80 peer-reviewed articles, written 3 book chapters, co-authored 5 international treatment guidelines, and presented at numerous congresses and international meetings.