Hanns Lochmüller

Senior Scientist, CHEO Research Institute

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

Email Hanns

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.

hanns-lochmuller

Read more about Hanns

Recent publications

Hentschel, A, Meyer, N, Kohlschmidt, N, Groß, C, Sickmann, A, Schara-Schmidt, U et al.. A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023. PMID:36692708

Rodríguez Cruz, PM, Ravenscroft, G, Natera, D, Carr, A, Manzur, A, Liu, WW et al.. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. Neuromuscul Disord. 2022.33 (2)161-168 PMID:36634413

Danko, V, Jüngert, J, Schuessler, S, Buehler, A, Klett, D, Federle, A et al.. Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy. J Neuroimaging. 2023. PMID:36627228

Spendiff, S, Dong, Y, Maggi, L, Rodríguez Cruz, PM, Beeson, D, Lochmüller, H et al.. 260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Naarden, The Netherlands. Neuromuscul Disord. 2022. PMID:36609117

Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Wenzel, F, Stein, S et al.. Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study. J Neuromuscul Dis. 2023.10 (1)29-40 PMID:36565133

Landfeldt, E, Abner, S, Pechmann, A, Sejersen, T, McMillan, HJ, Lochmüller, H et al.. Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review. Pharmacoeconomics. 2022. PMID:36515815

Melkus, G, Sampaio, ML, Smith, IC, Rakhra, KS, Bourque, PR, Breiner, A et al.. Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD). Neuromuscul Disord. 2023.33 (1)24-31 PMID:36462961

Snijders Blok, L, Verseput, J, Rots, D, Venselaar, H, Innes, AM, Stumpel, C et al.. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. HGG Adv. 2023.4 (1)100157 PMID:36408368

van Cruchten, RTP, van As, D, Glennon, JC, van Engelen, BGM, 't Hoen, PAC, OPTIMISTIC consortium et al.. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. BMC Med. 2022.20 (1)395 PMID:36352383

Karimzadeh, P, Najmabadi, H, Lochmuller, H, Babaee, M, Dehdahsi, S, Miryounesi, M et al.. Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature. Neuromuscul Disord. 2022.32 (10)806-810 PMID:36309462

Pechmann, A, Behrens, M, Dörnbrack, K, Tassoni, A, Wenzel, F, Stein, S et al.. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study. Orphanet J Rare Dis. 2022.17 (1)384 PMID:36274155

See more on PubMed