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

O'Connell, C, Rodrigue, X, Hodgkinson, V, Henley, K, Slayter, J, Aleman, A et al.. Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy - report of a national consensus workshop. J Neuromuscul Dis. 2025. 22143602251336076 PMID:40356341

Mancuso, M, Colitta, A, Lavorato, M, Van den Bergh, P, Kirschner, J, Kornblum, C et al.. The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey. Orphanet J Rare Dis. 2025.20 (1)221 PMID:40340786

Derksen, A, Thompson, R, Shaikh, M, Spendiff, S, Perkins, TJ, Lochmüller, H et al.. Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases. Hum Mutat. 2024.2024 7377504 PMID:40225917

Steyaert, W, Sagath, L, Demidov, G, Yépez, VA, Esteve-Codina, A, Gagneur, J et al.. Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing. Genome Res. 2025.35 (4)755-768 PMID:40138663

Pereira, BL, Barbosa, M, Granjo, P, Lochmüller, H, Videira, PA. Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy. Mol Genet Metab. 2025.144 (4)109075 PMID:40054019

Landfeldt, E, Alemán, A, Abner, S, Zhang, R, Werner, C, Tomazos, I et al.. In response to Gulcin Akinci's and Haluk Topaloglu's letter regarding our article "Predictors of loss of ambulation in Duchenne muscular dystrophy: A systematic review and meta-analysis". J Neuromuscul Dis. 2025.12 (1)22143602241312519 PMID:40012470

Smith, IC, Sampaio, ML, Melkus, G, Meier-Ross, K, Chakraborty, S, Stotts, C et al.. Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy. J Neuromuscul Dis. 2025.12 (2)244-259 PMID:39973404

Malaichamy, S, Idoux, R, Polavarapu, K, Šikić, K, Holla, E, Thompson, R et al.. Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle. Brain. 2025. PMID:39970126

Della Marina, A, Koutsoulidou, A, Natera-de Benito, D, Tykocinski, LO, Tomazou, M, Georgiou, K et al.. Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome. Acta Neuropathol Commun. 2025.13 (1)29 PMID:39948634

Laurie, S, Steyaert, W, de Boer, E, Polavarapu, K, Schuermans, N, Sommer, AK et al.. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nat Med. 2025.31 (2)478-489 PMID:39825153

Neuhoff, K, Kilicarslan, OA, Preuße, C, Zaum, AK, Kölbel, H, Lochmüller, H et al.. Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes. Biomedicines. 2024.12 (12) PMID:39767645

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Lochmüller Lab

Hanns Lochmüller and team: research and clinical activities