Australia’s top 10 rare disease research priorities: a priority setting partnership

Citation:
Sivaramakrishnan H, Reilly M, Jaffe A, Baynam G, Helwani F, McKenzie A, Finlay-Jones A. Australia’s top 10 rare disease research priorities: a priority setting partnership. J rare dis. 2026;5(1).

Keywords:
Rare disease; Consumer involvement; Priority setting; 
Research priorities; Stakeholder engagement

Abstract:
The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating perspectives of key stakeholders, including people living with rare disease, parents/carers, health professionals, and rare disease community advocates.