Rare diseases: a testbed for health innovation

Over 30 million people in Europe live with a rare disease. Most of them still lack access to accurate diagnosis or treatment options. These unmet needs, these “white spots”, are not fringe issues. They expose where the European Union’s health innovation model falls short: funding that stops at the edge of early research, regulatory frameworks that slow progress, and scattered infrastructure that prevents efficient collaboration across borders. 

Rare diseases are not just evidence of these gaps; they offer ground to develop and scale up new solutions. Anchoring rare diseases within the EU Life Science Strategy, and other upcoming legislative frameworks aligns with its call to scale up public-private partnerships to address high-need, low-return areas through shared infrastructure and translational research. Doing so would benefit the EU ’s capacity to innovate in life sciences more broadly, as well as those affected by rare conditions.

As the EU shapes the next Framework Programme (FP10), prepares the EU Biotech Act, and implements the measures outlined in the recently published EU Life Sciences Strategy, now is the time to ensure that rare diseases are recognised as a strategic driver of European innovation capacity.

FP10 and the MFF must make rare diseases a visible, coordinated priority

Fragmented, short-term funding continues to stall rare disease innovation at critical stages of the development pipeline. The Rare Disease Moonshot calls for a dedicated, visible funding stream under the next Framework Programme (FP10) and overall, within the next Multiannual Financial Framework (MFF). These EU funding programmes should recognise rare diseases as a priority that advances both public health and EU competitiveness. One concrete proposal is a "Fund Forward" mechanism, a flexible financing model that lets promising research move seamlessly across programmes, such as Horizon Europe, EU4Health, or the European Innovation Council. This approach would avoid pipeline drop-offs, especially for underfunded diseases with smaller populations by enabling the progression of promising innovations across the full spectrum of research and innovation activities-from discovery to implementation-through a responsive, purpose-driven funding architecture.

Long-term impact also depends on sustained investment in key infrastructures such as European Reference Networks (ERNs) for clinical expertise, EATRIS for translational research, BBMRI for biobanking research, and ECRIN for clinical trials coordination, essential platforms for cross-border research and clinical development in rare diseases. The EU has already built much of the backbone, and it now needs to ensure it’s used strategically and at scale.

The EU Biotech Act: an opportunity to address biotech financing gaps

The EU Biotech Act should serve as a forward-looking framework that enables the development, deployment, and scale-up of biotechnology across sectors. It offers an opportunity to simplify and modernise regulatory pathways through flexible approval mechanisms for advanced therapies, regulatory sandboxes, harmonised guidance documents, and coordinated scientific advice.

Biotech innovators, particularly SMEs and start-ups, need more tailored and hands on support to navigate regulatory and financial hurdles. The visibility and operational capacity of the Biotech and Biomanufacturing Hub should be strengthened, and a dedicated Biotech Innovation Interface should provide legal, regulatory, and acceleration services tailored to early-stage biotech actors. To support deployment, EU investment should also prioritise biotech infrastructure by including regional clusters that underpin industrial resilience and strategic autonomy. A European Biotech Innovation Fund, complementary to instruments such as the EIC Accelerator and Innovation Fund, could channel financing to early-stage and translational biotech, especially in high-need areas and limited market return such as rare diseases. 

Finally, to develop treatments in underserved areas that would ensure more options for patients without any, additional push and pull incentives could be considered to reward biotech solutions.

Simplification as a strategic necessity

Simplification is not about shortcuts; it is about enabling innovation without unnecessary friction. The Rare Disease Moonshot proposes to remove structural barriers (such as administrative bottlenecks, uncoordinated data rules, and so forth) to innovation development across sectors, rather than layering or amending overlapping legal frameworks, persistent horizontal challenges should be addressed by promoting true regulatory simplification. This includes the introduction of user-friendly, harmonised guidance materials; standardised templates for regulatory submissions; fit-for-purpose, risk-based timelines; and experimentation spaces such as regulatory sandbox pilots to test innovative biotech approaches in a controlled, supervised manner.

Europe’s opportunity lies in turning ambition into coherent action

The Rare Disease Moonshot welcomes the EU’s new focus on life sciences and competitiveness. However, making the EU competitive will require more than headline strategies. It means using rare diseases as a practical entry point to align funding, regulation, and infrastructure behind one goal: getting meaningful innovation to patients faster.

The EU has the tools, infrastructure, and expertise to lead in rare disease innovation. Rare diseases are more than a health challenge; they are a catalyst for building a more coherent, agile and competitive EU life sciences framework. The EU has the infrastructure, talent and regulatory tools to lead in this space. Now it needs the political will to align these assets behind a coherent, high-impact innovation strategy. By making rare diseases a visible priority across the Life Science Strategy, EU Biotech Act, MFF, and FP10, and by adopting an EU Rare Disease Action Plan, the EU can demonstrate that scientific excellence, competitiveness, and inclusivity go hand in hand.

Sources

Rare Disease Moonshot’s contribution to the Life Science consultation can be found here
Rare Disease Moonshot’s contribution to the EU Biotech Act consultation here
Rare Disease Moonshot’s contribution to the MFF consultation can be found here