Hanns Lochmüller

Senior Scientist, CHEO Research Institute

Professor of Neurology, University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of Medicine

Hanns is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare disease. He is a Senior Scientist at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute and the Ottawa Hospital Research Institute. He also holds appointments as Professor of Neurology in the University of Ottawa Faculty of Medicine and the Department of Medicine, Division of Neurology at The Ottawa Hospital. He is the co-director of the University of Ottawa Centre for Neuromuscular Disease and is affiliated with the University’s Brain and Mind Research Institute and Department of Cellular and Molecular Medicine.

Hanns trained as a neurologist in Munich, Germany and in Montreal, Canada. From 2007 to 2017, he held the chair of experimental myology at the Institute of Genetic Medicine at Newcastle University in the UK. He continues to hold a scientific appointment at the Department of Neuropediatrics and Muscle Disorders of the Medical Center – University of Freiburg in Germany and as visiting scientist at the Centro Nacional de Análisis Genómico (CNAG), Barcelona in Spain.

His research interests include molecular therapies of neuromuscular disorders; molecular pathogenesis of muscle and neuromuscular junction disorders; neurogenetics and translational research; data sharing and -omics in neuromuscular and rare diseases; and genomics and systems medicine. In addition to his scientific and clinical research interests, he is internationally active in rare disease science policy and research collaborations. He chaired the Interdisciplinary Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC) and the Executive Committee of the TREAT-NMD Alliance. He initiated and coordinated the highly successful “RD-Connect” international infrastructure for rare disease data and biosample sharing and analysis, is co-founder and former coordinator of the German muscular dystrophy network (MD-NET), and former scientific coordinator of EuroBioBank, a European (and Canadian) network of biobanks for rare disorders.

Hanns’s clinical activities focus on clinical research and care of patients with rare neuromuscular disorders, including myotonic dystrophy (DM1), spinal muscular atrophy (SMA), muscular dystrophy and congenital myasthenic syndromes (CMS). He has a strong commitment to working with patients and patient organizations in Canada, as he has with organizations in Europe for many years.

Recent publications

Holland, SH, Carmona-Martinez, R, Hentschel, A, Derksen, A, O'Connor, K, O'Neil, D et al.. Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking. Biomolecules. 2026.16 (7) PMID:42509760

Manis, C, Pertusati, F, Morewood, J, Roos, A, Kleefeld, F, Onali, M et al.. Bis(monoacylglycero)phosphate (BMP) as a circulating biomarker of lysosomal dysfunction in GNE myopathy. Clin Chim Acta. 2026.593 121244 PMID:42501775

Malaichamy, S, Polavarapu, K, Thompson, R, Idoux, R, Spendiff, S, Karcagi, V et al.. Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene. J Neurol. 2026.273 (8) PMID:42474733

Bélair, N, Brisson, JD, Brais, B, Rodrigue, X, Lochmüller, H, Hébert, LJ et al.. Muscle Strength, Balance, and Indoor Mobility in Oculopharyngeal Muscular Dystrophy: An Exploratory Canadian Multicenter Study. Muscle Nerve. 2026. PMID:42439050

Mah, JK, Lochmüller, H, Ward, L, Selby, K, Gonorazky, H, Sbrocchi, AM et al.. Expanding Vamorolone Treatment Access for Canadians with Duchenne Muscular Dystrophy. Can J Neurol Sci. 2026. 1-4 PMID:42438401

Munn, JS, Cohen, E, Hodgkinson, V, Lochmüller, H, Osman, H, Jewett, G et al.. Advancing neuromuscular disease research through real-world data: Challenges and lessons learned. J Neuromuscul Dis. 2026. 22143602261456016 PMID:42261210

Schellenberg, KL, Osman, H, Masnata, M, Hicks, R, Kagan, C, Stosic, A et al.. Implementation of a neuromuscular clinical trial network: a rare disease model for enhancing clinical trial readiness, capacity, and access in Canada. Orphanet J Rare Dis. 2026.21 (1) PMID:42192450

Ho, K, Adjei-Afriyie, O, Carmona-Martinez, R, Ray, R, O'Neil, D, Zeldin, J et al.. Gene-specific response to muscle specific kinase agonist antibody in the treatment of congenital myasthenic syndromes. Brain Commun. 2026.8 (3)fcag115 PMID:42146855

Mah, JK, Gonorazky, HD, Nigro, E, Lochmüller, H, Alemán, A, Yaworski, A et al.. Vamorolone Safety, Pharmacokinetics, and Exploratory Efficacy in Duchenne Muscular Dystrophy: A Phase II, Nonrandomized, Multiple-Dose Study in 2-<4-Year-Old Boys. Neurology. 2026.106 (11)e218066 PMID:42139656

Wei, S, Sasi, C, Piepenbrock, J, Huynen, MA, 't Hoen, PAC, SIMPATHIC Consortium et al.. KG-bench: benchmarking graph neural network algorithms for drug repurposing. Bioinformatics. 2026.42 (5) PMID:42103971

Pauper, M, Kölbel, H, Karakesisoglou, I, Schänzer, A, Böhm, J, Thompson, R et al.. A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies. Brain Pathol. 2026.36 (4)e70082 PMID:41776713

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Lochmüller Lab

Hanns Lochmüller and team: research and clinical activities