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

Regensburger, AP, Wagner, AL, Danko, V, Jüngert, J, Federle, A, Klett, D et al.. Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients. Photoacoustics. 2022.25 100315 PMID:34849338

Kurul, SH, Oktay, Y, Töpf, A, Szabó, NZ, Güngör, S, Yaramis, A et al.. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain. 2021. PMID:34791078

Estephan, EP, Zambon, AA, Thompson, R, Polavarapu, K, Jomaa, D, Töpf, A et al.. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. Eur J Neurol. 2021. PMID:34749429

Koutalianos, D, Koutsoulidou, A, Mytidou, C, Kakouri, AC, Oulas, A, Tomazou, M et al.. miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1. Mol Ther Methods Clin Dev. 2021.23 169-183 PMID:34703840

Huddar, A, Polavarapu, K, Preethish-Kumar, V, Bardhan, M, Unnikrishnan, G, Nashi, S et al.. Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis. Children (Basel). 2021.8 (10) PMID:34682174

Siddiqui, S, Polavarapu, K, Bardhan, M, Preethish-Kumar, V, Joshi, A, Nashi, S et al.. Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation. J Neuromuscul Dis. 2021. PMID:34633329

Richard, EM, Bakhtiari, S, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S et al.. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021.108 (10)2006-2016 PMID:34626583

Gangfuß, A, Czech, A, Hentschel, A, Münchberg, U, Horvath, R, Töpf, A et al.. Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. J Pathol. 2021. PMID:34599609

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

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