Published: Australia’s Top 10 Rare Disease Research Priorities

The Kids Research Institute Australia (formerly the Telethon Kids Institute) and Rare Voices Australia (RVA) have published Australia’s Top 10 Rare Disease Research Priorities. The report presents the outcomes of the Rare Disease Research Priority Setting Partnership project, which adopted a modified James Lind Alliance research approach. The aim of this work was to establish Australia’s Top 10 Rare Disease Research Priorities based on what matters most to people living with a rare disease, including their parents, carers, health professionals, and other rare disease community representatives.

Guided by RVA’s Scientific and Medical Advisory Committee, this project aimed to progress Priority 3.2 of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), “Develop a national research strategy for rare diseases to foster, support and drive all types of research for rare diseases, contributing to agreed priorities and systematically addressing gaps”. The Action Plan is the first nationally coordinated effort to improve health and wellbeing outcomes for Australians living with a rare disease.

Why This Work Matters

Australia’s Top 10 Rare Disease Research Priorities provide an important foundation to inform and guide future rare disease research efforts. Progress across the Top 10 priorities will assist in the ongoing collaborative implementation of the Action Plan.

The Top 10 priorities present a timely opportunity to attract greater attention and investment from health and medical research funders, research institutions, policymakers and industry. They are a valuable resource for all rare disease stakeholders, including researchers, clinicians, health service planners, advocacy organisations and government.

Acknowledgements

Thank you to the rare disease community for your genuine interest in this work and to all who dedicated their time to participate and contribute. RVA would also like to acknowledge the Project Steering Committee and Project Advisory Group whose collective expertise, guidance and professional networks were key to the success of the project.

Official Launch of Australia’s Top 10 Rare Disease Research Priorities

The first meeting for the new Australian Rare Disease Research Network (ARDRN) will take place on 18 September 2025 between 1pm and 2pm AEST. The ARDRN will be facilitated and chaired by RVA and SMAC members, Clin/Prof Gareth Baynam, Dr (Elizabeth) Emma Palmer and Dr Lisa Ewans. The virtual event will also mark the official launch of Australia’s Top 10 Rare Disease Research Priorities report. A discussion will be facilitated about the Top 10 priorities and the next possible best steps in terms of their implementation. All researchers are welcome to join the ARDRN. Learn more about the ARDRN and register via this web page.

Downloads

Download Australia’s Top 10 Rare Disease Research Priorities Report

Download Australia’s Top 10 Rare Disease Research Priorities