Prader-Willi syndrome (PWS) is a complex neuroendocrine disorder affecting approximately 1/15,000-1/30,000 people. Unmet medical needs of individuals with PWS make it a rare disease that models the importance of multidisciplinary approaches to care with collaboration between academic centers, medical homes, industry, and parent organizations. Interviews with medical professionals, scientists, managed care experts, parents, and individuals with PWS were conducted from July 1 to December 1, 2016. Data are presented based on consensus from these interviews by specialty focusing on unique aspects of care, research, and management. Establishment of clinics motivates collaboration to provide evidence-based new standards of care, increases the knowledge base including through randomized controlled trials. They have a role in global telemedicine, including to rural areas with few resources, and create opportunities for clinical work to inform basic and translational research. The full article you can find here.
Cases from the Undiagnosed Diseases Network