Lead Investigator & Steering Committee Member
Senior Scientist, CHEO Research Institute
Professor of Neurology, University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of Medicine
NMD4C Working Group(s): Biobanking, Clinical Trial Coordination, Patient RegistriesEmail Hanns
Dr. Hanns Lochmüller 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.
Dr. Lochmüller 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.
Dr. Lochmüller’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.
Hentschel, A, Meyer, N, Kohlschmidt, N, Groß, C, Sickmann, A, Schara-Schmidt, U et al.. Correction: 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:36941504
Nguyen, CDL, Jimenez-Moreno, AC, Merker, M, Bowers, CJ, Nikolenko, N, Hentschel, A et al.. Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1. J Neurol. 2023. PMID:36892629
McMacken, G, Whittaker, RG, Wake, R, Lochmuller, H, Horvath, R. Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment. J Neurol. 2023. PMID:36869887
Leduc-Gaudet, JP, Franco-Romero, A, Cefis, M, Moamer, A, Broering, FE, Milan, G et al.. MYTHO is a novel regulator of skeletal muscle autophagy and integrity. Nat Commun. 2023.14 (1)1199 PMID:36864049
Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH et al.. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023.14 (1)1009 PMID:36823193See more on PubMed