Our work on TSC has uncovered crucial mechanisms driving cystic kidney disease in this genetic disorder. Leveraging Hadassah's large multidisciplinary TSC clinic, we work closely with patients, parents, and professionals in Israel, Europe, the United States (through the TSC Alliance), and around the world to prevent and treat kidney disease in TSC patients.
Using complex mouse models and human samples, we have demonstrated that cysts originate from injured proximal tubular cells with hyperactive mTORC1 signaling. Our research has identified novel therapeutic targets, including the arginine biosynthesis pathway and inflammatory processes. Our groundbreaking findings show that prenatal interventions with rapamycin or dexamethasone can prevent renal cystogenesis and improve outcomes in TSC models.
Currently, we are exploring several promising molecular pathways and signaling mechanisms that may play key roles in TSC-associated kidney disease. These investigations aim to uncover new therapeutic targets and develop innovative treatment strategies. This collaborative, patient-centered approach ensures that our research directly addresses the most pressing needs of the TSC community.
