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.