Forging a Research Agenda for a Rare Disease

When Mary Beth Campbell’s son Calvin was diagnosed with Bloom Syndrome, a rare genetic disease that can lead to the development of cancer, she found a patient community that had mobilized in fits and starts. There had been efforts to create a patient registry and collect biosamples, but it was not consistently maintained. There was no natural history study of the disease, no animal model for it, no validated target for drug development, and no strong patient community. We spoke to Campbell about her efforts to catalyze the Bloom Syndrome community around a research agenda, how they looked to other rare disease communities to gauge their weaknesses, and how they prioritized what needs to be done.