Update: Australian Rare Disease Research Network Meeting – September 2026

The third Australian Rare Disease Research Network (ARDRN) virtual meeting for 2026 was held in September. The ARDRN brings together Australian rare disease researchers from a range of jurisdictions, disciplines and career stages, including members with expertise in research policy, health economics and research translation.

Rare Voices Australia (RVA) thanks the 40 ARDRN members who joined the meeting. We thank our speakers Prof Jodie Ingles, Jonathan Nguyen, Lucas Mitchell, Prof Zornitza Stark and Clin/Prof Gareth Baynam for sharing their expertise. RVA also thanks ARDRN co-chairs Associate Prof (Elizabeth) Emma Palmer and Clin/Prof Gareth Baynam for co-chairing the meeting.

Brief Meeting Summary

The meeting focused on two of Australia’s Top 10 Rare Disease Research Priorities: Priority 3, ‘Diagnosis, including screening’, and Priority 6, ‘Genetic testing’.

Prof Ingles and colleagues shared information about the Genomics of Rare Disease Registry, a national registry designed to connect people and families affected by known or suspected monogenic diseases with research opportunities and pathways towards genetic diagnosis. The team is also commencing research to better understand participants’ motivations, expectations and priorities for taking part in rare disease registries.

Prof Stark shared insights into the barriers and enablers to securing public funding for genomic testing following successful translational research. While Australia has made substantial progress in establishing Medicare Benefits Schedule (MBS) funding for genomic testing across several disease areas, significant gaps and inconsistencies remain.

Clin/Prof Baynam shared the work of the Wilhelm Foundation, the Undiagnosed Diseases Network International and international Undiagnosed Hackathons. These initiatives bring together people living with undiagnosed rare diseases and their families with clinicians, researchers, data scientists and technology experts to collaboratively investigate unresolved diagnoses.

ARDRN members discussed challenges, gaps and opportunities to progressing Priorities 3 and 6 of Australia’s Top 10 Rare Disease Research Priorities, including:

• The need to plan early for effective research translation, involving policymakers, health economists and other stakeholders to ensure research generates evidence relevant to assessment, funding and implementation.
• Recognising that existing disease-specific assessment and funding models can disadvantage rare diseases, where evidence generation is inherently difficult and condition-by-condition approaches may contribute to inequitable access, including to genomic testing.
• The need to investigate more flexible, platform-based assessment and funding approaches, which could recognise evidence that is relevant across multiple rare diseases rather than repeatedly requiring similar evidence for individual conditions.
• Acknowledging some groups, whose testing may benefit living relatives, do not fit easily within existing funding mechanisms.
• Acknowledging that Medicare funding alone does not ensure implementation, with workforce education, clinical pathways, infrastructure and system support also required.
• The need for an agreed definition and baseline for the undiagnosed population, as improved diagnostic yield does not capture those who remain unable to access testing due to barriers such as referral pathways, geography, workforce capacity or funding.

The next ARDRN meeting is scheduled for 2 December 2026. If you are an Australian rare disease researcher affiliated with a university or research institution and would like to join the ARDRN, please register by completing the form below.