In recognition of the importance of rare disease research, Pillar 3 of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) is Research and Data. The Action Plan is the first nationally coordinated effort to address rare diseases in Australia.

Australia’s Top 10 Rare Disease Research Priorities identify what matters most to people living with a rare disease, including their parents, carers, health professionals, and other rare disease community representatives.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) engages in rare disease health and medical research advocacy. In line with the Action Plan, RVA advocates for investment into all types of rare disease research. Researchers are welcome to contact RVA with any rare disease research policy gaps or barriers that may inform RVA’s advocacy priorities.

RVA engages with Australian researchers through our Scientific and Medical Advisory Committee (SMAC), the Australian Rare Disease Research Network (the ARDRN) and RVA’s Research Partnerships Program. RVA is also actively involved in several international rare disease research initiatives.

Chaired by Prof Adam Jaffé, RVA’s SMAC provides the organisation with medical and clinical perspectives, guidelines and information. SMAC is integral to ensuring the organisation’s efforts are grounded in the latest scientific evidence and medical best practices.

Facilitated and chaired by RVA and SMAC members, Clin/Prof Gareth Baynam, Dr (Elizabeth) Emma Palmer and Dr Lisa Ewans, the ARDRN aims to broaden RVA’s reach, bringing together a community of rare disease researchers across Australia. The ARDRN offers rare disease researchers a platform to connect and stay informed about:

• The changing rare disease policy landscape.
• Aligning with, and contributing to, the collaborative implementation of the Action Plan.
• Progressing Australia’s Top 10 Rare Disease Research Priorities.
• RVA’s advocacy priorities.
• Australia’s alignment with international research groups.

The ARDRN is open to all Australian-based researchers involved in rare disease research across diverse disciplines and career stages who are formally and directly affiliated with academic or research institutions. Members are invited to meet virtually through periodic virtual forums and email correspondence driven by gaps, opportunities and emerging needs in rare disease research.

RVA supports the need for high quality collaborative research that is person-centred and positively impacts Australians living with a rare disease. RVA welcomes genuine partnerships with groups planning or undertaking research that addresses core principles outlined in the Action Plan.

Australia is a renowned global leader in the rare disease space. ‘State, national and international partnerships’ is a critical enabler of the Action Plan. RVA is actively involved in several international rare disease research initiatives with strong connections to EURORDIS-Rare Diseases Europe, Rare Diseases International, and the European Rare Diseases Research Alliance (ERDERA).