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

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. 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. 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. 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. PMID:32619640

Landfeldt, E, Nikolenko, N, Jimenez-Moreno, C, Cumming, S, Monckton, DG, Faber, CG et al.. Change over time in ability to perform activities of daily living in myotonic dystrophy type 1. J. Neurol. 2020. PMID:32542526

Sansone, VA, Walter, MC, Attarian, S, Delstanche, S, Mercuri, E, Lochmüller, H et al.. Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report. J Neuromuscul Dis. 2020. PMID:32538864

Hodgkinson, VL, Oskoui, M, Lounsberry, J, M'Dahoma, S, Butler, E, Campbell, C et al.. A National Spinal Muscular Atrophy Registry for Real-World Evidence. Can J Neurol Sci. 2020. 1-6 PMID:32493524

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

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