Diagnostic and therapeutic innovation in central and peripheral nervous system diseases /
Neurology - Neuromuscular and Rare Diseases

Rare neuromuscular diseases:
Research activity is aimed at the etiopathogenetic study and new therapeutic approaches for rare neuromuscular diseases. In addition, there is a biobank dedicated to the collection of muscle tissue, peripheral nerves, DNA, and cell cultures from patients with these diseases.
In the field of electron microscopy, collaborative projects are underway with other Polyclinic laboratories aimed at ultrastructural analysis of both human and murine liver tissues.

Neural stem cells:
Research activity focuses on the study of pathogenetic mechanisms and the development of cellular and molecular therapeutic strategies for motor neuron, neurodegenerative, and neuromuscular diseases. Specifically, the diseases under study are Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy with Respiratory Distress (SMARD1), both with childhood onset, Amyotrophic Lateral Sclerosis (ALS), with adult onset, and inherited neuropathies such as Charcot-Marie-Tooth Disease type 2A (CMT2A). In order to analyze the molecular mechanisms of the diseases and the therapeutic potential of the newly developed strategies, in vitro cell models derived from induced pluripotent stem cells (iPSCs) obtained by reprogramming adult somatic cells are used. This strategy allows, on the one hand, valid patient-specific cellular models and, on the other hand, a valid cellular source for cell-mediated strategies: in fact, stem cell transplantation turns out to be a possible therapeutic approach for neurodegenerative diseases, acting both through cell replacement and neuroprotective mechanisms. In addition, validation studies of gene therapy strategies involving the use of adeno-associated vectors (AAVs) and molecular therapy with antisense oligonucleotides with morpholino chemistry (MO) are underway.