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Hanns Lochm├╝ller photo of Hanns Lochm├╝ller
Senior Scientist, Molecular Biomedicine Program, CHEO Research Institute
Professor, Department of Neurology, Faculty of Medicine, University of Ottawa
Neurologist, Division of Neurology, CHEO and Division of Neurology, The Ottawa Hospital
Current Research:
Dr. Lochmüller is world-renowned clinician-scientist in the field of neuromuscular disease whose research interests include identifying their genetic causes, unravelling how genetic changes lead to disease, and developing targeted therapies. Dr. Lochmüller uses a bench-to-bedside-to-bench approach that incorporates genomics, molecular biology, cellular and animal modelling, and clinical trials to improve the diagnosis and treatment of these diseases. In addition to his scientific and clinical research interests, he is internationally active in rare disease science policy and research collaborations. He was the inaugural Chair of the Interdisciplinary Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC) and the Executive Committee of the TREAT-NMD Alliance. He initiated and led the highly successful “RD-Connect”: a global infrastructure that enables sharing and analysis of rare disease genomic data and biosamples. He is also the co-founding Editor-in-Chief of the Journal of Neuromuscular Diseases, sits on numerous advisory boards and oversight committees, and has received prestigious prizes and awards.
Dr.  Lochmüller is currently recruiting highly motivated undergraduate, graduate and PhD students to work in his areas of research. Please contact him via email for more information. 
You can learn more about the Lochmüller lab here: 
Research Team:
  • Sally Spendiff
Dr. Hanns Lochmüller trained as a neurologist in Munich, Germany and in Montreal. From 2007 to 2017, he held the chair of experimental myology at the Institute of Genetic Medicine at the University of Newcastle, UK. Immediately prior to his appointment to the CHEO Research Institute, he was with the Medical Center – University of Freiburg, Department of Neuropediatrics and Muscle Disorders in Germany. He is also a visiting scientist at the Centre Nacional d’Anàlisi Genòmica, Centre for Genomic Regulation, Barcelona, in Spain. His clinical activities focus on clinical research and care of patients with rare neuromuscular disorders, including myotonic dystrophy, spinal muscular atrophy, muscular dystrophy and congenital myasthenic syndromes. He has a strong commitment to working with patients and patient organizations in Canada, the UK, Germany and other countries in Europe.
Sample Publications:
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0.

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H. Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225.

Duchenne muscular dystrophy and caregiver burden: a systematic review. Landfeldt E, Edström J, Buccella F, Kirschner J, Lochmüller H. Dev Med Child Neurol. 2018 Oct;60(10):987-996. doi: 10.1111/dmcn.13934. Epub 2018 Jun 14. Review.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. Owen D, Töpf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmüller H. Am J Med Genet A. 2018 Jul;176(7):1594-1601. doi: 10.1002/ajmg.a.38707. Epub 2018 Apr 28.

How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features. Lorenzoni PJ, Scola RH, Kay CSK, Werneck LC, Horvath R, Lochmüller H.
Neuromolecular Med. 2018 Jun;20(2):205-214. doi: 10.1007/s12017-018-8490-1. Epub 2018 Apr 25. Review.
Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. Lochmüller H, Evans D, Farwell W, Finkel R, Goemans N, de Lemus M, Matyushenko V, Muntoni F, Ouillade MC, Schwersenz I, Wilson P. J Neuromuscul Dis. 2018;5(2):131-133. doi: 10.3233/JND-180325. No abstract available.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium. Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact. Lochmüller H, Torrent I Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM; IRDiRC Consortium Assembly. Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20.

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. Lochmüller H, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Lasko P, Dawkins HJ, Austin CP, Boycott KM.
Eur J Hum Genet. 2017 Feb;25(2):162-165. doi: 10.1038/ejhg.2016.137. Epub 2016 Oct 26.

Becker and Duchenne muscular dystrophy: a two-way information process for therapies. Lochmüller H, Bushby K. J Neurol Neurosurg Psychiatry. 2014 Jan;85(1):5-6. doi: 10.1136/jnnp-2013-305193. Epub 2013 May 21. No abstract available.
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