Hanns Lochmüller

Senior Scientist, CHEO Research Institute

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

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), 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.

Recent publications

Tawil, R, Wagner, KR, Hamel, JI, Leung, DG, Statland, JM, Wang, LH et al.. Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial. Lancet Neurol. 2024.23 (5)477-486 PMID:38631764

Schwartz, O, Vill, K, Pfaffenlehner, M, Behrens, M, Weiß, C, Johannsen, J et al.. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA Pediatr. 2024. PMID:38587854

Della Marina, A, Hentschel, A, Czech, A, Schara-Schmidt, U, Preusse, C, Laner, A et al.. Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes. J Neuromuscul Dis. 2024. PMID:38578900

Ferreira, T, Polavarapu, K, Olimpio, C, Paramonov, I, Lochmüller, H, Horvath, R et al.. Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. J Neurol. 2024. PMID:38549004

Estévez-Arias, B, Matalonga, L, Martorell, L, Codina, A, Ortez, C, Carrera-García, L et al.. Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy. J Neuromuscul Dis. 2024. PMID:38489196

Chelban, V, Aksnes, H, Maroofian, R, LaMonica, LC, Seabra, L, Siggervåg, A et al.. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nat Commun. 2024.15 (1)2269 PMID:38480682

Núñez-Carpintero, I, Rigau, M, Bosio, M, O'Connor, E, Spendiff, S, Azuma, Y et al.. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nat Commun. 2024.15 (1)1227 PMID:38418480

Vill, K, Tacke, M, König, A, Baumann, M, Baumgartner, M, Steinbach, M et al.. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2. J Neurol. 2024. PMID:38409538

Günther, R, Wurster, CD, Brakemeier, S, Osmanovic, A, Schreiber-Katz, O, Petri, S et al.. Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study. Lancet Reg Health Eur. 2024.39 100862 PMID:38361750

Atalaia, A, Wandrei, D, Lalout, N, Thompson, R, Tassoni, A, 't Hoen, PAC et al.. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders. Orphanet J Rare Dis. 2024.19 (1)66 PMID:38355534

Warman-Chardon, J, Hartley, T, Marshall, AE, McBride, A, Couse, M, Macdonald, W et al.. Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurol Genet. 2023.9 (5)e200088 PMID:38235364

See more on PubMed

Lochmüller Lab

Hanns Lochmüller and team: research and clinical activities