Asset Publisher

angle-left John Mitchell, MD, M.Sc.

Scientist, RI-MUHC, Glen site

Child Health and Human Development Program

Associate Professor of Human Genetics and Pediatrics



PKU • Morquio syndrome • orphan disease • orphan therapy

Research Focus

My research focuses on 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. Patients missing that enzyme will not be able to break down certain sugars or proteins. The accumulation of these substances can cause damage to one organ (as phenylalanine does to the brain in PKU), or to many organs (in the way that glycosaminoglycans affect lungs, bones, eyes and heart in Morquio syndrome). My research aims to prevent organ damage by replacing the missing enzyme or by using alternate routes to prevent accumulation of the toxic substances.

Selected Publications

Click on Pubmed to see my current publications list

  • Vockley J, Andersson HC, Kevin M. Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH and Berry SA. For the American College of Medical Genetics and Genomics Therapeutic Committee, Phenylalanine Hydroxylase Deficiency Diagnosis and Management Guideline. Genetics in Medicine, e-publication 2014 Jan 2.

  • Trakadis YJ, Alfares A, Bodamer O, Buyukavic M , Christodoulou J, Connors E, Glamuzina E, Gonzalez-Fernandez F, Bibis H, Echenne B, Manoli I, Mitchell J, Nordwalli M, Pasai C, Scalia F, Schiffi M, Schrewe B, Toutali G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar T, Rosenblatt DS, Watkins D, Braverman N. Update on Transcobalamin Deficiency: clinical presentation, treatment and outcome. Journal of Inherited Metabolic Disease. E-publication 2013 Dec 5.

  • Potter B, Geraghty M, Kronick J, Wilson K, Mitchell J, Siriwardena K, Little J, Mhanni A, Feigenbaum A, Coyle D, Chakraborty P. Achieving the "triple aim" for inborn errors of metabolism: a practice-based evidence framework to guide outcomes research. Genetics in Medicine 15(6):415-22, 2013.

  • Harmatz P, Chang M, Decker C, Burton B, Guffon N, Heindriksz C, Hollak C, Jones S, Lin S, Mengel E, Mitchell J, Parini R, Valayannopoulos V, Vellodi A. The Morquio Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Molecular Genetics & Metabolism 109(1):54-61, 2013.

  • Larochelle J, Alvarez F, Bussiere J-F, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Linstedt S, Maranda B, Melancon S, Meronaini A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver S, Mitchell G. Effect of Nitisinone (NTBC) Treatment on the Clinical Course of Hepatorenal Tyrosinemia in Québec. Molecular Genetics and Metabolism 107, 49-54, 2012.