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 was recently appointed as 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.

Professor Hanns Lochmüller

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Recent publications

Ricci, G, Cammish, P, Siciliano, G, Tupler, R, Lochmuller, H, Evangelista, T et al.. Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Muscle Nerve. 2019. PMID:30895627

Carrera-García, L, Natera-de Benito, D, Dieterich, K, de la Banda, MGG, Felter, A, Inarejos, E et al.. CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. Am. J. Med. Genet. A. 2019. PMID:30868735

Pogoryelova, O, Wilson, IJ, Mansbach, H, Argov, Z, Nishino, I, Lochmüller, H et al.. GNE genotype explains 20% of phenotypic variability in GNE myopathy. Neurol Genet. 2019.5 (1)e308 PMID:30842975

Oury, J, Liu, Y, Töpf, A, Todorovic, S, Hoedt, E, Preethish-Kumar, V et al.. MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. J. Cell Biol. 2019. PMID:30842214

Landfeldt, E, Nikolenko, N, Jimenez-Moreno, C, Cumming, S, Monckton, DG, Gorman, G et al.. Disease burden of myotonic dystrophy type 1. J. Neurol. 2019.266 (4)998-1006 PMID:30788616

Dusl, M, Moreno, T, Munell, F, Macaya, A, Gratacòs, M, Abicht, A et al.. Congenital myasthenic syndrome caused by novel COL13A1 mutations. J. Neurol. 2019. PMID:30767057

Lochmüller, H, Ambrosini, A, van Engelen, B, Hansson, M, Tibben, A, Breukel, A et al.. The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018. J Neuromuscul Dis. 2019.6 (1)161-172 PMID:30714970

Landfeldt, E, Edström, J, Jimenez-Moreno, C, van Engelen, BGM, Kirschner, J, Lochmüller, H et al.. Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review. Patient. 2019. PMID:30714084

Pechmann, A, König, K, Bernert, G, Schachtrup, K, Schara, U, Schorling, D et al.. SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy. Orphanet J Rare Dis. 2019.14 (1)18 PMID:30665421

Moore, U, Jacobs, M, James, MK, Mayhew, AG, Fernandez-Torron, R, Feng, J et al.. Assessment of disease progression in dysferlinopathy: A 1-year cohort study. Neurology. 2019. PMID:30626655

Cipriani, S, Phan, V, Médard, JJ, Horvath, R, Lochmüller, H, Chrast, R et al.. Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C. Int J Mol Sci. 2018.19 (12) PMID:30562927

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