The research of my lab centers on advancing our understanding of skeletal and cardiac muscle biology and translating these insights into therapeutic strategies for heritable muscle diseases. We employ patient-derived human induced pluripotent stem cells (hiPSCs) and mouse models to dissect the molecular mechanisms driving disease pathogenesis. This approach enables us to pinpoint critical cellular targets and refine gene-editing interventions that can restore normal muscle function. Our workflow begins in vitro, where patient-specific hiPSCs are differentiated into myotubes or cardiomyocytes for preliminary testing of novel gene-editing tools. Promising strategies are then evaluated in vivo using mouse models, allowing us to validate efficacy and safety under physiologically relevant conditions. Finally, we guide successful interventions toward preclinical development, aiming to bridge the gap from bench to bedside.
Our research areas of investigation are:
1. Generating and refining innovative in vitro (hiPSC-derived muscle cells) and in vivo (mouse) disease models to better replicate the pathology of skeletal and cardiac muscle disorders.
2. Pioneering advanced gene-editing methods, such as CRISPR-Cas-based systems, to correct disease-causing mutations and restore muscle function at its genetic root.
3. Optimizing the delivery of gene-editing components to ensure robust, tissue-specific targeting, minimal off-target effects, and long-term safety.
By integrating these research areas, our lab aims to accelerate the transition from fundamental mechanistic studies to clinically actionable interventions, ultimately improving patient outcomes and quality of life.
