Rewiring research funding to deliver impact in Rare Disease White Spots

The Rare Disease Moonshot contribution to the EURORDIS’ Blueprint for an EU Action Plan on Rare Diseases

In European rare disease research, the main challenge often lies not in discovery itself, but in the progression of promising scientific outputs into assets that are sufficiently robust, usable and mature to support further development, regulatory engagement and, ultimately, impacting people’ lives. This challenge is especially acute in rare disease white spots, where scientific knowledge, infrastructure, data resources and commercial incentives are weak from the outset. The problem is therefore not only the level of funding, but how funding is structured, deployed and connected to downstream use.

The white paper shows that this is a systemic issue. Across the ecosystem, responsibility is distributed but progression is not owned. Funders support discrete stages, researchers deliver within project boundaries, regulators and HTA bodies intervene at specific moments, and industry engages selectively once projects reach a certain maturity. Between these stages, however, there is no clear organising function to preserve momentum, support maturation, or ensure that outputs become ready for the next user in the chain. As a result, many projects stall for reasons that are structural rather than scientific. Current incentive and evaluation systems reinforce this pattern. Researchers respond to what is rewarded: publications, novelty, feasibility, grant success and institutional visibility. Activities that matter for progression, such as validation, reproducibility, standardisation, data curation and early alignment with downstream expectations, remain less valued. Evaluation frameworks also tend to favour fields that already have the cohorts, infrastructure and prior data needed to compete, leaving white spots at a structural disadvantage.

The paper also identifies the “messy middle” as the main bottleneck. Validation, de-risking, reproducibility, development planning, and early regulatory and HTA alignment require dedicated support, but are too often treated as implicit extensions of discovery. In parallel, shared infrastructures such as registries, cohorts and curated data assets remain fragmented and fragile. Progress therefore depends too heavily on ad hoc arrangements, informal networks and individual capacity. The core conclusion is clear: Europe needs not only more investment in rare disease research, but a rewiring of research funding so that progression itself becomes an object of design, support and governance.

Download the white paper here.