Engaging patient-led rare disease organizations to advance research – through the lens of Bardet–Biedl syndrome

For researchers and clinician-scientists, forging partnerships with patient-led rare disease organizations can be a challenge. Patient-led rare disease organizations often operate quite differently to research and medical institutions, large private or public funding organizations, and pharmaceutical or biotechnology companies, leaving researchers and clinician-scientists uncertain about how, when and where to engage for mutual benefit. However, the value of reciprocal engagement can be immense, paying dividends in new research directions, accelerating existing research, facilitating access to funding and achieving success in translation. Most importantly, it can improve the lives of individuals with disease. In this Perspective, we will explore the value of engaging and collaborating with patient-led rare disease organizations through the lens of a rare syndromic ciliopathy - Bardet-Biedl syndrome (BBS) - for which patient-led organizations exist in multiple countries. We explain what researchers should know about how rare disease organizations operate, discuss examples of successful engagement between researchers, clinician-scientists and patient-led organizations, and review the 'do's and don't's' of successful collaboration.