Rosa Bacchetta is an associate professor of pediatrics at Stanford University. Her goal as a physician-scientist is to use modern technologies in the laboratory to find cures for untreatable pediatric diseases. Bacchetta’s primary focus has been the rare autoimmune disorder IPEX syndrome, short for immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. In this disorder, a mutation in the critical transcription factor gene forkhead box P3 (FOXP3) causes regulatory T cell dysfunction. The result is a collection of unwanted immune reactions appearing in infancy against a person’s own tissues.
Shortly after researchers identified the connection between FOXP3, regulatory T cells, and IPEX syndrome, Bacchetta began treating the disorder with allogenic stem cell transplants that use donor cells. Twenty years later, she innovates IPEX treatments using gene therapy strategies that edit the mutated FOXP3 in patients’ own immune and stem cells.
Medicine and research were always linked for me; I loved pediatrics and ...
