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 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.
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Rodríguez Cruz, PM, Cossins, J, de Paula Estephan, E, Munell, F, Selby, K, Hirano, M et al.. The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain. 2019. PMID:31081514
Lochmüller, H, Behin, A, Caraco, Y, Lau, H, Mirabella, M, Tournev, I et al.. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. Neurology. 2019.92 (18)e2109-e2117 PMID:31036580
Boczonadi, V, King, MS, Smith, AC, Olahova, M, Bansagi, B, Roos, A et al.. Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Genet. Med. 2019. PMID:31028354
Dominov, JA, Uyan, Ö, McKenna-Yasek, D, Nallamilli, BRR, Kergourlay, V, Bartoli, M et al.. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Ann Clin Transl Neurol. 2019.6 (4)642-654 PMID:31019989
Landfeldt, E, Edström, J, Sejersen, T, Tulinius, M, Lochmüller, H, Kirschner, J et al.. Quality of life of patients with spinal muscular atrophy: A systematic review. Eur. J. Paediatr. Neurol. 2019. PMID:30962132
Pogoryelova, O, Urtizberea, JA, Argov, Z, Nishino, I, Lochmüller, H, ENMC workshop study group et al.. 237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018. Neuromuscul. Disord. 2019. PMID:30956020
Landfeldt, E, Lochmüller, H, Lindgren, P. Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy. Orphanet J Rare Dis. 2019.14 (1)75 PMID:30940156
Thompson, R, Bonne, G, Missier, P, Lochmüller, H. Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. Emerg Top Life Sci. 2019.3 (1)19-37 PMID:30931400
Ricci, G, Cammish, P, Siciliano, G, Tupler, R, Lochmuller, H, Evangelista, T et al.. Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Muscle Nerve. 2019.59 (6)711-713 PMID:30895627
Carrera-García, L, Natera-de Benito, D, Dieterich, K, de la Banda, MGG, Felter, A, Inarejos, E et al.. CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. Am. J. Med. Genet. A. 2019.179 (6)915-926 PMID:30868735
Pogoryelova, O, Wilson, IJ, Mansbach, H, Argov, Z, Nishino, I, Lochmüller, H et al.. GNE genotype explains 20% of phenotypic variability in GNE myopathy. Neurol Genet. 2019.5 (1)e308 PMID:30842975See more on PubMed