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

Horrigan, J, Gomes, TB, Snape, M, Nikolenko, N, McMorn, A, Evans, S et al.. A Phase 2 Study of AMO-02 (Tideglusib) in Congenital and Childhood-Onset Myotonic Dystrophy Type 1 (DM1). Pediatr Neurol. 2020.112 84-93 PMID:32942085

Hodgkinson, V, Lounsberry, J, M'Dahoma, S, Russell, A, Benstead, T, Brais, B et al.. The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Through a Nationwide, Pan-Neuromuscular Disease Registry. J Neuromuscul Dis. 2020. PMID:32925088

McMacken, G, Whittaker, RG, Charlton, R, Barresi, R, Lochmüller, H, Horvath, R et al.. Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies. Eur J Neurol. 2020. PMID:32909314

Atalaia, A, Thompson, R, Corvo, A, Carmody, L, Piscia, D, Matalonga, L et al.. A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. Orphanet J Rare Dis. 2020.15 (1)206 PMID:32787960

Hedberg-Oldfors, C, Meyer, R, Nolte, K, Abdul Rahim, Y, Lindberg, C, Karason, K et al.. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain. 2020.143 (8)2406-2420 PMID:32779703

Donkervoort, S, Mohassel, P, Laugwitz, L, Zaki, MS, Kamsteeg, EJ, Maroofian, R et al.. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A. 2020.182 (10)2272-2283 PMID:32776697

Passarelli, C, Selvatici, R, Carrieri, A, Di Raimo, FR, Falzarano, MS, Fortunato, F et al.. Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. Front Genet. 2020.11 605 PMID:32719714

Hodgkinson, VL, Chapman, K, Izenberg, A, Lochmüller, H, O'Connell, C, O'Ferrall, EK et al.. Response to provincial governments' decisions regarding monitoring for adults with Spinal Muscular Atrophy. Can J Neurol Sci. 2020. 1-10 PMID:32713403

Lim, AZ, McMacken, G, Rastelli, F, Oláhová, M, Baty, K, Hopton, S et al.. A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features. Neuromuscul Disord. 2020.30 (8)661-668 PMID:32684384

McMacken, G, Lochmüller, H, Bansagi, B, Pyle, A, Lochmüller, A, Chinnery, PF et al.. Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. J Neurol. 2020. PMID:32656641

Matalonga, L, Laurie, S, Papakonstantinou, A, Piscia, D, Mereu, E, Bullich, G et al.. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. J Mol Diagn. 2020.22 (9)1205-1215 PMID:32619640

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