Understanding Cellular Dysfunction and Developing Targeted Therapies in Fabry Disease

Our research explores the molecular mechanisms of cellular dysfunction in Fabry disease and develops targeted therapies to slow its progression. Caused by GLA gene mutations, Fabry disease leads to Gb3 accumulation, triggering oxidative stress, mitochondrial dysfunction, and inflammation, which drive organ damage in the kidneys, heart, and vasculature. Beyond genetic correction, we investigate these pathological pathways to identify therapeutic targets and explore pharmacological interventions, including antioxidants, autophagy modulators, and small-molecule therapeutics, to reduce Gb3 accumulation and restore cellular homeostasis. By integrating molecular insights with targeted therapies, we seek to expand treatment options to ultimately improve patient outcomes and quality of life.