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

Gangfuß, A, Lochmüller, H, Töpf, A, O'Heir, E, Horvath, R, Kölbel, H et al.. A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. Am J Med Genet A. 2021. PMID:34519148

Schüle, R, Timmann, D, Erasmus, CE, Reichbauer, J, Wayand, M, Solve-RD-DITF-RND et al.. Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet. 2021.29 (9)1462-1465 PMID:34429526

Jimenez-Moreno, AC, Pinto, CA, Levitan, B, Whichello, C, Dyer, C, Van Overbeeke, E et al.. A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project. Wellcome Open Res. 2020.5 253 PMID:34395923

Matalonga, L, Hernández-Ferrer, C, Piscia, D, Solve-RD SNV-indel working group, Schüle, R, Synofzik, M et al.. Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021.29 (9)1466-1469 PMID:34393220

Zurek, B, Ellwanger, K, Vissers, LELM, Schüle, R, Synofzik, M, Töpf, A et al.. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021.29 (9)1459-1461 PMID:34385672

Polavarapu, K, Mathur, A, Joshi, A, Nashi, S, Preethish-Kumar, V, Bardhan, M et al.. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. Neurogenetics. 2021.22 (4)271-285 PMID:34333724

van As, D, Okkersen, K, Bassez, G, Schoser, B, Lochmüller, H, Glennon, JC et al.. Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy. J Neuromuscul Dis. 2021. PMID:34250945

McMillan, HJ, Lochmüller, H. Biomarkers in Duchenne and Becker muscular dystrophies. Muscle Nerve. 2021.64 (1)4-5 PMID:34076279

Matalonga, L, Hernández-Ferrer, C, Piscia, D, Solve-RD SNV-indel working group, Schüle, R, Synofzik, M et al.. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021.29 (9)1337-1347 PMID:34075210

Töpf, A, Pyle, A, Griffin, H, Matalonga, L, Schon, K, Solve-RD SNV-indel working group et al.. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021.29 (9)1348-1353 PMID:34075209

Zurek, B, Ellwanger, K, Vissers, LELM, Schüle, R, Synofzik, M, Töpf, A et al.. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021.29 (9)1325-1331 PMID:34075208

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