The neuromuscular network for Canada

funder-logos_nmd4c

Hanns Lochmüller

hanns-lochmuller

Senior Scientist, CHEO Research Institute

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

Email Hanns

Read more about Hanns

Biography

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.

Recent publications

Yaramis, A, Lochmüller, H, Töpf, A, Sonmezler, E, Yilmaz, E, Hiz, S et al.. COL4A1-related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet. 2020.6 (1)e392 PMID:32042920

Savarese, M, Johari, M, Johnson, K, Arumilli, M, Torella, A, Töpf, A et al.. Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies. J Neuromuscul Dis. 2020. PMID:32039858

Nilipour, Y, Fatehi, F, Sanatinia, S, Bradshaw, A, Duff, J, Lochmüller, H et al.. Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. J. Neurol. Sci. 2020.411 116707 PMID:32007756

Capitanio, D, Moriggi, M, Torretta, E, Barbacini, P, De Palma, S, Viganò, A et al.. Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients. J Cachexia Sarcopenia Muscle. 2020. PMID:31991054

Spitali, P, Zaharieva, I, Bohringer, S, Hiller, M, Chaouch, A, Roos, A et al.. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. Eur. J. Hum. Genet. 2020. PMID:31896777

Landfeldt, E, Nikolenko, N, Jimenez-Moreno, C, Cumming, S, Monckton, DG, Faber, CG et al.. Activities of daily living in myotonic dystrophy type 1. Acta Neurol. Scand. 2019. PMID:31889295

Signorelli, M, Ayoglu, B, Johansson, C, Lochmüller, H, Straub, V, Muntoni, F et al.. Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle. 2019. PMID:31881125

Devereux, L, Watson, PH, Mes-Masson, AM, Luna-Crespo, F, Thomas, G, Pitman, H et al.. A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review. Biopreserv Biobank. 2019.17 (6)512-519 PMID:31794678

Pechmann, A, Eckenweiler, M, Schorling, D, Stavropoulou, D, Lochmüller, H, Kirschner, J et al.. De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure. Neuromuscul. Disord. 2019.29 (11)907-909 PMID:31732390

Higgs, C, Hilbert, JE, Wood, L, Martens, WB, Marini-Bettolo, C, Nikolenko, N et al.. Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries. Front Neurol. 2019.10 1071 PMID:31681146

Walter, MC, Wenninger, S, Thiele, S, Stauber, J, Hiebeler, M, Greckl, E et al.. Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study. J Neuromuscul Dis. 2019.6 (4)453-465 PMID:31594243

See more on PubMed

Read next...

kathy-selby

Kathryn Selby

hugh-mcmillan

Hugh McMillan

bernard-brais

Bernard Brais

craig-campbell

Craig Campbell

reshma-amin

Reshma Amin