Baebies congratulates Duke’s Priya Kishnani, MD, PhD, who currently serves on the company’s Advisory Board, on being named one of the 2016 Rare Disease Heroes. The first annual Rare Disease Hero Recognition Gala, held on October 17 honors five healthcare institutions and their medical teams for outstanding contributions in the rare disease community.
Dr. Kishnani was interviewed during the event and talks about the long journey for Pompe disease treatment approval and the addition of the disease to newborn screening panels. That journey was complex with many unexpected results. But as Dr Kishnani explains, those unexpected results have led to an improved understanding of Pompe disease as well as a better understanding of our body’s immunological response to certain treatments. Dr Kishnani’s story is an inspiration to many in the rare disease community as she continues to find better treatments for Pompe disease as well as other treatments for other rare conditions such as hypophosphatasia.
The Division of Medical Genetics at Duke University Medical Center is internationally recognized for delivering the highest quality of comprehensive clinical genetics services by addressing all aspects of patient care for rare genetic and metabolic diseases. Dr. Kishnani, who leads the Duke Lysosomal Storage Disease treatment center, has changed the lives of thousands of patients through her research and care.