John J. Mitchell, MD, M.Sc., FRCP, Pediatric Endocrinologist

Pediatric Endocrinology and Biochemical Genetics
Fun fact about me 

I like to skateboard.

I love working with children and their families because 
I enjoy working with families with chronic disease as I get to know the families and work with them through tough times. I find that these children have amazing resilience and courage and I often am in awe of how well they cope.

Hospital information

Academic appointments 

Associate Professor of Human Genetics and Pediatrics, McGill University

Other appointments 

MUHC Association of Clinical Researchers, Member of the executive committee



1984-1988 B.Sc. (Biological psychology), University of British Columbia

Medical Degree 

1994-1998 Doctor of Medicine, University of British Columbia


1998-2001 Pediatric residency, Montreal Children’s Hospital-McGill University


2001-2003 Clinical Fellow – Pediatric Endocrinology, Montreal Children’s Hospital-McGill University

2003-2004 Clinical Fellow – Biochemical Genetics, Children’s Hospital at Westmead-Sydney University, Australia


Research interests 

I am interested in the treatment of rare metabolic diseases known as orphan diseases. Diseases such as phenylketonuria (PKU) or lysosomal storage disorders are caused by a lack of a specific enzyme. I am involved in cutting edge therapies for orphan diseases including chaperone therapies, enzyme replacement therapies and gene therapies. I am also interested in how the Canadian and Quebec government evaluate and  decide on approval and coverage of orphan therapies.

Research foci 
  • Phenylketonuria
  • Morquio syndrome
  • Farber disease
  • Lysosomal storage diseases
  • Glycogen storage disease
  • Orphan diseases

PKU; Morquio syndrome; orphan disease; orphan therapy

Selected publications 

Goudie C, Alayoubi A*, Tibout P, Duval M, Maranda B, Mitchell D, Mitchell JJ, Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case reports and literature review. Journal of Inherited Metabolic Disease Reports,  2019;46:4651 doi  10.1002/jmd2.12008

Steunenberg TAH F. Peeks,F I.J. Hoogeveen IJ, Mitchell JJ, H. Mundy H,  de Boer F, Lubout CMA, de Souza CF, D.A. Weinstein DA, Derks TGJ.  Safety Issues Associated with Dietary Management in Patients with Hepatic Glycogen Storage Disease, Molecular Genetics and Metabolism, 125:79-85, 2018. doi: 10.1016/j.ymgme.2018.07.004

Clarke L, Ellaway C, Foster H, Gigliani R, Goizet C, Hawley S, Jurecki E, Zhan Z, Lampe C, Martin K, McMullen S, Mitchell J, Mubarack F, Muenzer J, Sivri S, Stewart FJ, Tylki-Szymanska A, White K, Wijburg F, Understanding the early presentation of mucopolysaccharidosis: results of a systematic literature review and physician survey, Journal of Inborn Errors of Metabolism and Screening, 7:1-12, 2018.

TingleyK, Coyle D, Graham ID, Sikora L, Chakraborty P, Wilson K, Mitchell JJ, Stockler-Ipsoroglu S and Potter BK Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases, Orpahanet Journal of Rare Disease, 13, 104, 2018,

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Roncarolo F, Pizzino A, Dilenge M-E, Poulin M, Majnemer A, Sebire G, Srour M, Osterman B, Boucher R-M, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffman R, Goizet C, Moutton S, Bernard G. Health-related quality of life for genetically determined leukoencephalopathy patients and their families, Developmental Medicine and Child Neurology, 84 21-26, 2018,

Hendriksz CJ,  Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Norberto Guelbert N, Stewart F, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR.  Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study,  Molecular Genetics and Metabolism, 2018 Feb;123(2):127-134,

Potter BK, Hutton B, Clifford TJ, Pallone N, Smith M, Stockler S, Barbeau P, Garritty CM, Pugliese M, Rahman A, Skidmore B, Tessier L , Tingley K, Chakraborty P, Coyle D, Greenberg CR, Korngut L, MacKenzie A, Mitchell JJ, Nichols S, Offringa M, Schulze A, Taljaard M in collaboration with the Canadian Inherited Metabolic Disease Research Network.  Establishing Core Outcome. Sets for Phenylketonuria (PKU) and Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Children: Protocol , Trials, 2017, 18:603 doi:10.1186/s13063-017-2327-3.

Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N,  Jones SA,  Sutton V,  Pastores GM, Lau H, Sparkes R, Shaywitz A, Cardiopulmonary exercise testing reflects improved exercise capacity in response to treatment in Morquio A patients: Results of a 52 week pilot study of two different doses of Elosulfase Alfa,  JIMD reports, DOI: 10.1007/8904_2017_70.

Shapiro EG, Escolar ML, Delaney K, Mitchell JJ. Assessment of neurocognitive function in mucopolysacchardoses. Molecular Genetics and metabolism, Dec;122S:8-16. doi: 10.1016/j.ymgme.2017.09.007

Rapoport D, Mitchell John J. Pathophysiology, evaluation and management of sleep disorders in the mucopolysaccharidoses.  Molecular Genetics and Metabolism, 2017 Dec;122S:49-54 , 10.1016/j.ymgme.2017.08.008

Schuchman, E, Mitchell JJ, Solyom A. Morbidity and mortality associated with Farber disease and prospects for therapy, Expert opinion on orphan drug, published online August 2017.