Faculty profile

John Mitchell

ResearcherMcGill University

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a McGill University directory, so their courses may be missing. Find their university profile.

John Mitchell

Researcher

Health Sciences

McGill University

Montreal, Quebec, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
3 publications in the last five years, latest in 2026.
Principal investigator on 2 research grants (2 CIHR), most recently in 2022.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

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Grants

Publications by year

Counts cover the works listed on the university profile; citation counts come from Dimensions.

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Signals and details

Research

Growth Mucopolysaccharidoses Pain Quality Of Life Rare Disease Tnf-Alpha

Latest papers

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.
Molecular genetics and metabolism · 2026
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
Genome medicine · 2025
Rare diseases and space health: optimizing synergies from scientific questions to care.
NPJ microgravity · 2022

All 14 publications

Latest funding

The Safety and Efficacy of Adalimumab for Pain Reduction in Individuals with Mucopolysaccharidoses: A Phase 1/2 Randomized, Double-Blind, Placebo-Controlled Trial
CIHR · 2022 · Nominated PI
$293,643
The Safety and Efficacy of Adalimumab for Pain Reduction in Individuals with Mucopolysaccharidoses: A Phase 1/2 Randomized, Double-Blind, Placebo-Controlled Trial
CIHR · 2022 · Nominated PI
$1,174,568

All 2 grants and awards

14 publications.

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Muenzer J, Dant M, Dickson PI, Ellinwood NM, Fuller M, Giugliani R, Hemsley K, Jones S, Klein T, Lampe C, Mitchell J, Muschol N, O'Neill C, Okuyama T, Scarpa M, Stewart F, Stevens B, Stephens K

Molecular genetics and metabolism2026

DOI: 10.1016/j.ymgme.2026.109911 PMID: 41935419

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

Bennett JJ, Saint-Martin C, Neumann B, Männistö JME, Houghton JAL, Empting S, Johnson MB, Laver TW, Locke JM, Spurrier B, Wakeling MN, Banerjee I, Dastamani A, Demirbilek H, Mitchell J, Stange M, International Congenital Hyperinsulinism Consortium, Mohnike K, Arnoux JB, Owens NDL, Zenker M, Bellanné-Chantelot C, Flanagan SE

Genome medicine2025

DOI: 10.1186/s13073-025-01440-w PMID: 40033430

Rare diseases and space health: optimizing synergies from scientific questions to care.

Puscas M, Martineau G, Bhella G, Bonnen PE, Carr P, Lim R, Mitchell J, Osmond M, Urquieta E, Flamenbaum J, Iaria G, Joly Y, Richer É, Saary J, Saint-Jacques D, Buckley N, Low-Decarie E

NPJ microgravity2022

DOI: 10.1038/s41526-022-00224-5 PMID: 36550172

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J

Nutrients2021Senior author

DOI: 10.3390/nu13113828 PMID: 34836082

Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I.

Roth J, Inbar-Feigenberg M, Raiman J, Bisch M, Chakraborty P, Mitchell J, Di Geso L

Molecular genetics and metabolism2021

DOI: 10.1016/j.ymgme.2021.05.009 PMID: 34090760

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR

Human mutation2020

DOI: 10.1002/humu.24056 PMID: 32449975

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G

Pediatric neurology2018

DOI: 10.1016/j.pediatrneurol.2018.03.015 PMID: 29859719

Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch.

Rousseau-Nepton I, Huot C, Laforte D, Mok E, Fenyves D, Constantin E, Mitchell J

Molecular genetics and metabolism2018Senior author

DOI: 10.1016/j.ymgme.2017.09.003 PMID: 29223626

The Québec NTBC Study.

Québec NTBC Study Group, Alvarez F, Atkinson S, Bouchard M, Brunel-Guitton C, Buhas D, Bussières JF, Dubois J, Fenyves D, Goodyer P, Gosselin M, Halac U, Labbé P, Laframboise R, Maranda B, Melançon S, Merouani A, Mitchell GA, Mitchell J, Parizeault G, Pelletier L, Phan V, Turcotte JF

Advances in experimental medicine and biology2017

DOI: 10.1007/978-3-319-55780-9_17 PMID: 28755196

Unique medical issues in adult patients with mucopolysaccharidoses.

Mitchell J, Berger KI, Borgo A, Braunlin EA, Burton BK, Ghotme KA, Kircher SG, Molter D, Orchard PJ, Palmer J, Pastores GM, Rapoport DM, Wang RY, White K

European journal of internal medicine2016First author

DOI: 10.1016/j.ejim.2016.05.017 PMID: 27296591

Write to this professor

A short, specific email works best. This draft uses one of their recent papers; replace the parts in brackets with your own details before sending.

Applying for

Paper to mentionMention their CIHR grant from 2022

Subject: Prospective PhD student: Growth Dear Professor Mitchell, My name is [your name], and I am a [your current degree or role] at [your institution]. I am applying for a PhD position starting in [term and year]. I read your paper "Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges." (2026), and it connects closely to my own work on [your research topic]. [One or two sentences on what you did and what you learned.] I also saw your CIHR-funded project "The Safety and Efficacy of Adalimumab for Pain Reduction in Individuals with Mucopolysaccharidoses: A Phase 1/2 Randomized, Double-Blind, Placebo-Controlled Trial" (2022), and I would be glad to contribute to work in that direction. Are you accepting new PhD students for [term and year]? I have attached my CV and transcripts, and I would be glad to talk at a time that suits you. Thank you for your time. Kind regards, [your name]

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John Mitchell

Research

Latest papers

Latest funding

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

Rare diseases and space health: optimizing synergies from scientific questions to care.

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I.

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch.

The Québec NTBC Study.

Unique medical issues in adult patients with mucopolysaccharidoses.

The Safety and Efficacy of Adalimumab for Pain Reduction in Individuals with Mucopolysaccharidoses: A Phase 1/2 Randomized, Double-Blind, Placebo-Controlled Trial

The Safety and Efficacy of Adalimumab for Pain Reduction in Individuals with Mucopolysaccharidoses: A Phase 1/2 Randomized, Double-Blind, Placebo-Controlled Trial

Frequent collaborators

Nancy Braverman

Yann Joly

Myriam Srour

Daniela Pohl

Johannes Roth

Joan Saary

Annette Majnemer

Paul Goodyer

Jacek Majewski

Elsa Rossignol

Atul Sharma

Pranesh Chakraborty

Celia Rodd

Evelyn Constantin

Myriam Srour

Evelyn Constantin

John Mitchell

Research

Latest papers

Latest funding

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

Rare diseases and space health: optimizing synergies from scientific questions to care.

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I.

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch.

The Qu&#xe9;bec NTBC Study.

Unique medical issues in adult patients with mucopolysaccharidoses.

The Safety and Efficacy of Adalimumab for Pain Reduction in Individuals with Mucopolysaccharidoses: A Phase 1/2 Randomized, Double-Blind, Placebo-Controlled Trial

The Safety and Efficacy of Adalimumab for Pain Reduction in Individuals with Mucopolysaccharidoses: A Phase 1/2 Randomized, Double-Blind, Placebo-Controlled Trial

Frequent collaborators

Nancy Braverman

Yann Joly

Myriam Srour

Daniela Pohl

Johannes Roth

Joan Saary

Annette Majnemer

Paul Goodyer

Jacek Majewski

Elsa Rossignol

Atul Sharma

Pranesh Chakraborty

Celia Rodd

Evelyn Constantin

Myriam Srour

Evelyn Constantin

The Québec NTBC Study.