Mark Tarnopolsky

Mark Tarnopolsky

Co-Applicant

Professor of Pediatrics and Medicine, Director of Neuromuscular and Neurometabolic Clinic, McMaster University Medical Center

CEO/CSO Exerkine Corporation


NMD4C Involvement: Pillar 1: Preclinical Science

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Research Interests: Mitochondrial disease, Neurogenetic diagnostics, Neurometabolic disorders, MD therapeutics, Aging/sarcopenia, Obesity

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Biography

Dr. Tarnopolsky is a neuromuscular and neurometabolic clinician-scientist who received an MD and PhD (Cell Biology and Metabolism) from McMaster University.  He currently holds an endowed chair from McMaster Children’s Hospital Foundation in the area of neuromuscular and neurometabolic genetic disorders and follows over 1500 patients with myopathies, mitochondrial disorders and other neurogenetic disorders. He has published over 500 peer reviewed papers and has an h-index of 142.  His research focuses on pharmacological, nutraceutical and exercise therapies for neuromuscular and neurometabolic disorders, aging, obesity and other disorders that affect the mitochondria and muscle function.  He is the founder, CEO and CSO of Exerkine Corporation which is a bio-technology/nutraceutical company developing therapies for aging, obesity, muscular dystrophy and mitochondrial disorders.


Recent Publications

Murphy, K, Lindsay, T, Tan, K, Lau, S, Elias, G, Luke, K et al.. Antioxidant premedication reduces mitochondrial and nuclear DNA damage repair in interventional physicians performing X-ray-guided angiography procedures: a pilot clinical intervention study. CVIR Endovasc. 2026.9 (1) PMID:42771222

Hussein, R, Tayyib, A, Lin, S, Parameswarappa, D, Mehta, M, Mohla, A et al.. Biallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes. Invest Ophthalmol Vis Sci. 2026.67 (11)18 PMID:42725911

Van Hove, JLK, Friederich, MW, Van Hove, RA, Lee, JC, Knight, KM, Donovan, TE et al.. Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease. EMBO Mol Med. 2026. PMID:42711551

Green, L, Hamilton, N, Elpidorou, M, Maroofian, R, Zaki, MS, Douglas, AGL et al.. Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function. Res Sq. 2026. PMID:42466401

Van Hove, JLK, Friederich, MW, Van Hove, RA, Lee, JC, Knight, KM, Donovan, TE et al.. The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease. medRxiv. 2026. PMID:42369463

Adams, FC, Ramdeo, KR, Ahmad, M, Foglia, SD, Drapeau, CC, Hussain, M et al.. Effects of baclofen and lorazepam on interhemispheric inhibition in humans. Exp Physiol. 2026.111 (8)3818-3827 PMID:42349869

Hansen, A, Luca, S, Moran, O, Babul-Hirji, R, Coe, TB, Wilk, K et al.. Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing. J Genet Couns. 2026.35 (3)e70218 PMID:42083766

Assamad, D, Hansen, A, Fooks, K, Luca, S, Venkataramanan, V, Hsue, E et al.. Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study. BMJ Open. 2026.16 (3)e115821 PMID:41895807

Barreth, N, Leclair, V, Hudson, M, Bernatsky, S, Krustev, E, Moran Toro, C et al.. Soluble SIGLEC1 as a biomarker of disease activity in idiopathic inflammatory myopathies. Rheumatology (Oxford). 2026.65 (4) PMID:41872012

Ng, SY, Mikhail, AI, Mattina, SR, Lesinski, MA, Rebalka, IA, Hamstra, SI et al.. Direct AMPK Activation Confers Mutation-Independent Therapeutic Benefit in Duchenne Muscular Dystrophy. J Cachexia Sarcopenia Muscle. 2026.17 (1)e70200 PMID:41638771

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