We study the underlying biological mechanisms of monogenic neuromuscular diseases to understand how specific genetic mutations lead to muscle weakness and degeneration. This knowledge allows us to identify critical molecular and cellular targets that could be used to develop new therapies. Our team designs and conducts preclinical proof-of-concept studies to evaluate the potential of these therapeutic strategies in laboratory models. Once validated, we work to transition these approaches into early-phase clinical trials, helping to move promising treatments toward patient care. By integrating basic science with translational research, we strive to close the gap between discovery and clinical impact. Our goal is to bring meaningful advances to individuals affected by these rare and often debilitating conditions.

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