Forging a Rare Disease Research Agenda

Cara O’Neill was a practicing pediatrician, but after her daughter was diagnosed at age 3 with Sanfilippo syndrome, she turned her attention to driving research into the rare lysosomal storage disorder. Today, O’Neill serves as the chief science officer of Cure Sanfilippo Foundation, an organization she and her husband founded. It has since funded $6.5 million in research through more than 20 scientific projects and clinical trials. We spoke to O’Neill about Sanfilippo syndrome, her journey from physician to advocate, and her efforts to craft a research agenda.