Rare Voices Australia (RVA) was invited to participate in a targeted consultation led by the Medical Research Future Fund (MRFF) Evaluations Team to support its assessment of the progress and impact of the Research Missions Program.

RVA also provided a written submission to the consultation informed by input from the broader rare disease sector, including members of RVA’s Scientific and Medical Advisory Committee (SMAC) and the Australian Rare Disease Research Network (ARDRN).

The findings from this evaluation have now been published on the Department of Health, Disability and Ageing’s website (the Department). They will be used to inform future funding and grant arrangements for the Research Missions theme and the MRFF more broadly.

RVA welcomes the opportunities for improvement identified through the evaluation. Of particular importance is the report’s recognition of a major barrier to research translation that RVA has consistently highlighted: the systemic disconnect between research activity, health system priorities and policy needs, and the resulting gap between research outcomes and their translation into health policy and practice. RVA was also pleased to see recognition that research embedded within health systems is more likely to generate sustainable and scalable outcomes.

What the Report Says About Rare Disease Research Within the Research Missions Program 

The evaluation found that people with rare or currently untreatable conditions are among the most addressed priority populations across the Research Missions Program. However, it remains difficult to determine precisely how much funding has been directed specifically to rare disease research.

The evaluation also found that the Genomics Health Futures Mission has made particularly strong progress towards achieving its respective aims, which are notable for people living with a rare disease. These include faster and more effective diagnosis; prevention and earlier intervention; the development of new targeted interventions; and increased community understanding of the social and economic value of genomics in healthcare and practice.

The evaluation noted that ‘rare conditions, including non-oncological rare diseases, conditions too rare for conventional effectiveness studies, the diagnostic odyssey and access to existing therapies’, could fall within the remit of several existing Research Missions—an assumption that risks undermining the case for a dedicated mission for non-oncological rare diseases. RVA cautions against this assumption. Significant rare disease data gaps within the MRFF and across health and medical research funders more broadly mean it is not currently possible to determine how much research funding is being directed to rare disease. Without this visibility, it is difficult to assess whether rare disease research is being adequately supported through existing Research Missions.

Towards Increased Investment in Rare Disease Research 

The way priorities for the Research Missions Program are influenced by measures of disease burden is an ongoing challenge. People living with a rare disease remain largely invisible across Australian systems (health, disability etc.), making it difficult to accurately quantify and monitor the collective burden of rare diseases.

Rare diseases are not adequately captured in Australian burden of disease data. This means their collective impact is unlikely to be prioritised through the Missions Program. This lack of visibility may contribute to the comparatively limited recognition and funding of rare disease research within Australia’s broader research system.

Future MRFF priority-setting must carefully consider recommendations from advocacy groups and affected communities. Additionally, an ongoing commitment must be made to strengthen the evidence base for populations that remain poorly captured in existing data. This would ensure that Australia is accurately capturing burden and unmet need so that relevant research priorities can be considered in funding and policy decisions.