Senior Scientist, CHEO Research Institute
Professor of Neurology, University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of MedicineEmail 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.
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McMillan, HJ, Lochmüller, H. Biomarkers in Duchenne and Becker muscular dystrophies. Muscle Nerve. 2021. PMID:34076279
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. PMID:34075209
Wenninger, S, Cumming, SA, Gutschmidt, K, Okkersen, K, Jimenez-Moreno, AC, Daidj, F et al.. Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1. Neurol Genet. 2021.7 (2)e572 PMID:33884298
Slayter, J, Hodgkinson, V, Lounsberry, J, Brais, B, Chapman, K, Genge, A et al.. A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method. J Neuromuscul Dis. 2021. PMID:33867362
Pini, J, Siciliano, G, Lahaut, P, Braun, S, Segovia-Kueny, S, Kole, A et al.. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019. J Neuromuscul Dis. 2021. PMID:33843694
Hathazi, D, Cox, D, D'Amico, A, Tasca, G, Charlton, R, Carlier, RY et al.. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain. 2021. PMID:33792664
Atalaia, A, Thompson, R, Corvo, A, Carmody, L, Piscia, D, Matalonga, L et al.. Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome. Orphanet J Rare Dis. 2021.16 (1)145 PMID:33752678
McMillan, HJ, Gerber, B, Cowling, T, Khuu, W, Mayer, M, Wu, JW et al.. Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada. J Neuromuscul Dis. 2021. PMID:33749617
Lochmüller, H, Ramirez, AN, Kakkis, E. Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders. Orphanet J Rare Dis. 2021.16 (1)141 PMID:33743771
Manta, A, Spendiff, S, Lochmüller, H, Thompson, R. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'. J Neuromuscul Dis. 2021.8 (3)401-417 PMID:33720849
Grande, V, Hathazi, D, O Connor, E, Marteau, T, Schara-Schmidt, U, Hentschel, A et al.. Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients. J Neuromuscul Dis. 2021. PMID:33682722See more on PubMed