Neuromuscular repair

Neuromuscular repair

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Head of unit

Stefano Carlo Previtali

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Progressive tissue degeneration and defective regeneration are responsible for disability in most chronic neuromuscular disorders, including inherited neuropathies and muscular dystrophies. Although in many cases the genetic causes are well known, much remains to discover regarding the pathogenetic mechanisms and reliable therapies. The main goal of our research is to investigate the pathogenetic role of adhesion and cytoskeleton rearrangement in neuromuscular disorders and tissue regeneration, and to identify potential therapeutic strategies.

Research activity

Our main fields of study include:

  • The role of adhesion in nerve and muscle development and pathology.  
  • Discovery of new genes involved in the pathogenesis of inherited neuropathies and muscular dystrophies, by exploiting next generation sequencing, functional studies, and iPS cells.
  • Pathogenesis and potential therapies for Merosin-deficient Congenital Muscular Dystrophy (or LAMA2 disorder), characterized by muscular dystrophy and dysmyelinating neuropathy. Use of animal and cellular models.
  • The role of Jab1 and related cell-cell adhesion molecules in the control of axon-glia interaction, myelination, and in tissue repair.
  • Preclinical and clinical trials for neuromuscular disorders, with primary focus on CMT neuropathies and Duchenne muscular dystrophy.