Hanns Lochmüller

Senior Scientist, CHEO Research Institute

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

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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

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

Kletzl, H, Marquet, A, Günther, A, Tang, W, Heuberger, J, Groeneveld, GJ et al.. The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy. Neuromuscul. Disord. 2018. PMID:30553700

Thompson, R, Abicht, A, Beeson, D, Engel, AG, Eymard, B, Maxime, E et al.. A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era. Orphanet J Rare Dis. 2018.13 (1)211 PMID:30477555

Köhler, S, Carmody, L, Vasilevsky, N, Jacobsen, JOB, Danis, D, Gourdine, JP et al.. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res. 2019.47 (D1)D1018-D1027 PMID:30476213

Phan, V, Cox, D, Cipriani, S, Spendiff, S, Buchkremer, S, O'Connor, E et al.. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human. Neurobiol. Dis. 2018.124 218-229 PMID:30468864

Estephan, EP, Zambon, AA, Marchiori, PE, da Silva, AMS, Caldas, VM, Moreno, CAM et al.. Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. Neuromuscul. Disord. 2018.28 (11)961-964 PMID:30266223

Coenen-Stass, AML, Sork, H, Gatto, S, Godfrey, C, Bhomra, A, Krjutškov, K et al.. Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD. Mol Ther Nucleic Acids. 2018.13 1-15 PMID:30219269

Alrohaif, H, Pogoryelova, O, Al-Ajmi, A, Aljeryan, LA, Alrashidi, NH, Alefasi, SA et al.. GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. Muscle Nerve. 2018.58 (5)700-707 PMID:30192030

Wood, L, Bassez, G, Bleyenheuft, C, Campbell, C, Cossette, L, Jimenez-Moreno, AC et al.. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis. 2018.13 (1)155 PMID:30185236

González Coraspe, JA, Weis, J, Anderson, ME, Münchberg, U, Lorenz, K, Buchkremer, S et al.. Biochemical and pathological changes result from mutated Caveolin-3 in muscle. Skelet Muscle. 2018.8 (1)28 PMID:30153853

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