Rare diseases

Rare diseases such as Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, Noonan syndrome, VEXAS syndrome, Hutchinson-Gilford Progeria syndrome, polycystic kidney disease, and other rare neurodevelopmental and neuromuscular disorders are actively studied at ITB. Research in this area integrates complementary expertise across the Institute, spanning genetics, epigenetics, molecular profiling, extracellular matrix biology, pharmacological response, gene and stem cell therapy, AI-based stratification approaches, and patient-specific disease models, with the common goal of improving disease understanding, diagnosis, stratification, and therapeutic development.