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Our team research project focuses on the study of mechanisms involved in the pathophysiology of hereditary neuromuscular diseases, including myopathies and muscular dystrophies caused by titin gene mutations (titinopathies), Duchenne and Becker muscular dystrophies (dystrophinopathies) and the facioscapulohumeral dystrophy (FSHD).
Our research is based on an integrated approach starting from the patient (clinical and genetic cohort data) and extending to characterization of phenotypic variability and to basic approaches aimed at exploring the molecular and cellular bases of deregulation of various processes in the diseased muscle cell (gene expression, differentiation, regeneration, oxidative metabolism, calcium signaling pathways, muscle homeostasis, …).
Beyond a better understanding of the involved pathophysiological mechanisms, our work also aims at identification of diagnostic and prognostic biomarkers that are useful for patient follow-up, measurement of response to treatments in clinical trials, improvement of personalized patient management and for the characterization of potential targets for the development of innovative therapeutic approaches.
The team’s research program is divided into the following three axes: