Global Priority Setting Partnership on Rare Diseases

Cardiff and Vale University Health Board is leading an international Priority Setting Partnership (PSP) focused on rare diseases using the James Lind Alliance (JLA) methodology. This collaborative initiative brings together patients, caregivers, and healthcare professionals to identify and prioritize the most important unanswered research questions in rare disease management and treatment. A 20-member international steering group—comprising equal representation from healthcare professionals and people with lived experience of rare diseases or their advocates—will guide the project scope and direction. The PSP will adopt a broad, inclusive approach to gather research priorities from diverse populations across all age groups and from low-, middle-, and high-income countries, ensuring that the resulting priorities reflect global needs and perspectives in rare disease research.