Hanns Lochmüller

Senior Scientist, CHEO Research Institute

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

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Hanns is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare disease. He is Senior Scientist at the Children’s Hospital of Eastern Ontario (CHEO) 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 affiliated with the University of Ottawa Brain and Mind Research Institute and Department of Cellular and Molecular Medicine and with the Ottawa Centre for Neuromuscular Disease.

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), Centre for Genomic Regulation, 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

Thompson, R, Spendiff, S, Roos, A, Bourque, PR, Warman Chardon, J, Kirschner, J et al.. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Lancet Neurol. 2020.19 (6)522-532 PMID:32470424

Oktay, Y, Güngör, S, Zeltner, L, Wiethoff, S, Schöls, L, Sonmezler, E et al.. Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families. J Neuromuscul Dis. 2020. PMID:32444556

Strandberg, K, Ayoglu, B, Roos, A, Reza, M, Niks, E, Signorelli, M et al.. Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy. J Neuromuscul Dis. 2020. PMID:32390640

Paketci, C, Edem, P, Hiz, S, Sonmezler, E, Soydemir, D, Sarikaya Uzan, G et al.. Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. Brain Dev. 2020. PMID:32389449

Landfeldt, E, Pogoryelova, O, Sejersen, T, Zethraeus, N, Breiner, A, Lochmüller, H et al.. Economic Costs of Myasthenia Gravis: A Systematic Review. Pharmacoeconomics. 2020. PMID:32363541

Bonanno, C, Rodolico, C, Töpf, A, Foti, FM, Liu, WW, Beeson, D et al.. Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene. Neuromuscul. Disord. 2020.30 (4)336-339 PMID:32360402

Murphy, LB, Schreiber-Katz, O, Rafferty, K, Robertson, A, Topf, A, Willis, TA et al.. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Ann Clin Transl Neurol. 2020. PMID:32342672

Lorenzoni, PJ, Kay, CSK, Arndt, RC, Hrysay, NMC, Ducci, RD, Fustes, OHJ et al.. Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness. J Clin Neurosci. 2020.75 195-198 PMID:32238315

Pęziński, M, Daszczuk, P, Pradhan, BS, Lochmüller, H, Prószyński, TJ. An improved method for culturing myotubes on laminins for the robust clustering of postsynaptic machinery. Sci Rep. 2020.10 (1)4524 PMID:32161296

Landfeldt, E, Thompson, R, Sejersen, T, McMillan, HJ, Kirschner, J, Lochmüller, H et al.. Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis. Eur. J. Epidemiol. 2020. PMID:32107739

Yaramis, A, Lochmüller, H, Töpf, A, Sonmezler, E, Yilmaz, E, Hiz, S et al.. COL4A1-related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet. 2020.6 (1)e392 PMID:32042920

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