Hanns Lochmüller
Senior Scientist, CHEO Research Institute
Professor of Neurology, University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of Medicine
Email HannsHanns 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.

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Recent publications
Ippolito, C, Deguise, MO, Lochmüller, H, McMillan, HJ, McAdam, L. Bullying experiences of youth with neuromuscular disorders and their well-being: A survey study. J Neuromuscul Dis. 2025. 22143602251369279 PMID:40853190
Grant, A, Smith, IC, Lessard, LER, Osman, H, Lochmuller, H, McMillan, HJ et al.. Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study. Neurology. 2025.105 (5)e213982 PMID:40834345
Eisenkölbl, A, Lochmüller, H, Carter, MT, Hamilton, LE, McMillan, HJ. Congenital-onset MLASA2 from a novel YARS2 variant: A literature review. J Neuromuscul Dis. 2025. 22143602251369227 PMID:40808490
Smith, IC, Abusetah, Y, Osman, H, Garg, A, Grant, A, Lochmuller, H et al.. Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol. Orphanet J Rare Dis. 2025.20 (1)404 PMID:40770363
Harkness, JR, McDermott, JH, Marsden, S, Jamieson, P, Metcalfe, KA, Khan, N et al.. Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series. Lancet Neurol. 2025.24 (8)667-680 PMID:40683276
Spendiff, S, Lochmüller, H, Maselli, RA. Congenital myasthenic syndromes. Int Rev Neurobiol. 2025.182 253-274 PMID:40675739
Laurie, S, Steyaert, W, de Boer, E, Polavarapu, K, Schuermans, N, Sommer, AK et al.. Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nat Med. 2025.31 (8)2819-2820 PMID:40537530
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. 2025.12 (5)699-710 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
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