Rare diseases, despite affecting millions worldwide, remain an underserved area in medical research. Over 7,000 rare diseases have been identified, yet fewer than 5% have available treatments. This significant gap highlights the urgent need for transformative action. Two years ago, the Rare Disease Moonshot was launched to address these challenges through groundbreaking public-private collaboration.

To mark its second anniversary, representatives from patient organisations, EURORDIS-Rare Disease Europe, researchers, European Rare Disease Research Alliance (ERDERA), industry stakeholders, European Federation of Pharmaceutical Industries and Associations (EFPIA), and MEP Voiculescu took part in a Euronews debate to explore the progress made, the challenges ahead, and the systemic changes required to create lasting impact.

"White Spots" in Rare Disease Research

Many rare diseases remain understudied, with just a handful of publications offering insufficient foundations for the development of diagnostics or treatments. The fragmented and linear nature of traditional research approaches causes delays and inefficiencies. These knowledge gaps and slow progress leave many patients and families without suitable solutions.

Addressing these white spots in research requires a shift from siloed and sequential R&D processes to more collaborative, interconnected approaches. By bringing together all relevant players—academia, industry, regulators, patients, and clinicians—public-private partnerships can enable or accelerate progress. In these partnerships, the problem is defined collectively, goals are aligned, and solutions are developed together. Knowledge, expertise, and infrastructure are shared, and the needs and priorities of all parties are addressed.

Partnering is often the solution

While partnering offers clear advantages, it is more complex than working in silos. Perceived or real conflicts of interest can also create barriers, even though there are numerous examples demonstrating that such challenges can be effectively managed. Public-private partnerships have been shown to deliver excellent science and accelerate the R&D process, as evidenced by initiatives like the Innovative Health Initiative (IHI) and its predecessor, the Innovative Medicines Initiative (IMI). However, few funding programmes explicitly encourage or incentivise such collaborations. ERDERA, the European Rare Diseases Research Alliance, is one of the first public-public partnerships to actively offer space for public-private collaborations on its platform.

The need for change

Cross-sector collaboration is essential to change scientific paradigms, such as the development of solutions for disease groups that share similar characteristics and to adapt research and regulatory processes, as well as healthcare delivery models to this evolution.

This cultural and organisational paradigm shift requires stronger support from policymakers, and the definition of common goals across public, private, and public-private initiatives. Funding tools must be aligned across national and European health and research programmes, creating a coherent framework that supports collaboration wherever it can make difference.

Even if public-private collaboration occurs only at certain stages of the research process, a continuous dialogue between all stakeholders is essential from the outset and throughout. This approach will help avoid duplication, align research with real-world needs, build mutual understanding and trust, and reduce resistance and delays.

European Reference Networks are ready for research

The European Reference Networks (ERNs) serve as a model for effective collaboration. Established to connect healthcare providers across Europe, ERNs have made significant contributions to data sharing and joint research and are well-positioned to play a central role in rare disease diagnostics and treatment.

However, integrating ERNs into the broader research ecosystem requires additional funding and structural support. Originally designed for healthcare delivery, these networks need adaptations to maximise their research potential. Pilot projects (under the Together For Rare Diseases initiative) are already underway to explore how the public and private sectors can work together within the ERN framework, paving the way for more impactful collaborations.

A joint RD Moonshot spirit to support a collective mission

In the two years since its creation, the Rare Disease Moonshot has delivered a shared roadmap for public-private collaborations in the rare disease space. Through collective or individual actions, it has triggered or strengthened public-private collaborations in IHI, European Joint Programme Cofund on Rare Disease (EJP RD) and ERDERA — spanning clinical trials, regulatory science, translational research, and capacity building.

As the Rare Disease Moonshot moves into its third year, several priorities have emerged:

• Development of a systematic approach to public-private collaboration
• Better integration of new technologies into the research process
• Strengthen the deployment in research/healthcare of research outcomes
• Improved implementation of existing regulations
• Focus on regulatory compliance from early research stages
• Sustainability of research infrastructures, including trans

The political momentum Is now

With the ongoing review of pharmaceutical legislation, the upcoming Life Science Strategy, Innovation Act, Biotech Act, and the Competitiveness Fund, the stars are aligning to unlock research into rare disease white spots. The Multi-Annual Financial Framework (MMF) and FP10 offer key opportunities to integrate a rare disease research roadmap into future funding programmes across all instruments.

Key actions needed to maintain momentum include:

• Integrating rare disease research into future funding programmes
• Continuing commitment to collaborative research and public-private partnerships (like the IHI and ERDERA)
• Simplifying FP10 rules to facilitate public-private collaboration
• Removing real and perceived barriers, such as those posed by the Statement of the European Reference Networks Board of Member States on their collaborations with industry
• Ensuring all existing and prospective stakeholders are engaged
• Sustaining European Reference Networks and supporting their integration into broader research activities
• Aligning and accelerating clinical trial reviews and approval processes across Europe and facilitating cross-border trials
• Creating a stable and predictable environment to attract investors, retain talent, and foster innovation

With the implementation of proposed changes and continued commitment to collaboration, there is real hope for progress in treating rare diseases that currently lack therapeutic options. Europe must seize this opportunity to lead the way in tackling the white spots in rare disease research. By fostering a unified, collaborative, and well-supported research ecosystem, we can drive innovation that ultimately improves the lives of millions of patients and families worldwide.

The 'Rare Disease Moonshot' is a commitment and collaboration between nine organisations to break down the barriers to finding new treatments and cures for the world’s rarest and most severe conditions which currently have no therapeutic options.