Mar 11, 2019
Robin chats with David Pearce, executive vice president of innovation and research at Sanford Health, about the diagnosis and treatment of rare diseases. Technology is at the forefront in the treatment of rare disease with the advent of gene therapy, Pearce says. There is tremendous interest from Big Phama in rare diseases, Pearce points out, noting the recent purchase of rare disease technological treatments platforms by both Roche and Novartis. Also, Sanford Research now hosts a central registry/database for all rare diseases, called CoRDS (Coordination of Rare Diseases), which can be accessed by clinicians, advocacy groups, and patients. Sanford Research also provides an annual course for patient advocacy groups, which provides instruction and guidance on a variety of issues, including how to talk to providers about rare diseases. It’s difficult for physicians to be experts on more than 7,000 rare diseases, Pearce notes, so education on the diagnosis, for example, in the neurological area, is essential. Two-thirds of rare diseases have a genetic basis, Pearce notes. However, running genetic panels is more sophisticated today than even a few years ago, but issues with reimbursement still remain. Should there be a Moonshot for Rare Diseases? “I’d love that,” says Pearce.