My academic and professional path has been consistently guided by a strong interest in understanding the molecular mechanism underlying neuromuscular and neurodevelopmental diseases. I contributed to numerous preclinical pharmacological studies evaluating both novel and repurposed drugs in in vitro cellular models and in vivo predictive animal models of rare neuromuscular disorders. Over the years, I have developed extensive expertise in designing, executing, and monitoring in vivo and ex vivo experimental protocols to assess the efficacy and safety of pharmacological treatments in murine models of rare degenerative neuromuscular diseases. My technical expertise encompasses a strong
background in cell culture methodologies, complemented by proficiency in a broad range of biochemical and molecular biology techniques. I have extensive experience in calcium imaging, spectrophotometric assays, ELISA, Western blotting for protein analysis, Real-Time PCR for gene expression analysis, as well as histomorphological and immunohistochemical procedures. My multidisciplinary approach reflects my dedication to advancing research in neuromuscular diseases. I have provided crucial insights into structural and functional alterations underlying muscle
diseases of genetic and non-genetic origin through in vivo, ex vivo, and in vitro studies and a multidisciplinary approach combining molecular biology, pharmacology, and electrophysiology. Furthermore, several studies were dedicated to the characterization of mutated channels in a cellular model of epilepsy obtaining a correlation genotype/phenotype of patients with neurodevelopmental disorders. I have had the opportunity to take on significant leadership and collaborative roles in various research projects. I have actively participated in over 15 national and international congresses and my career is characterized by extensive national and international collaborations in the field of rare neuromuscular and
neurodevelopmental diseases. Through these multidisciplinary partnerships, I have contributed to advancing the understanding of disease mechanisms, identifying potential therapeutic targets, and fostering the development of novel treatment strategies. These collaborations have facilitated the integration of cutting-edge methodologies, the exchange of expertise across research groups, and the implementation of translational approaches aimed at improving patient outcomes in the context of rare neuromuscular disorders.
