Rare diseases as a strategic driver of Europe’s biotech leadership

For decades, Europe has been losing ground in the global competition for life sciences investment, research, and development. The Biotech Act I proposal is an important part of an effort to reverse this trend, which is why it has been welcomed by Europe’s rare disease community with enthusiasm.

The case for boosting Europe’s biotech sector is both moral and strategic. The unmet needs are enormous. While more than 30 million people in Europe live with a rare disease, approved treatments exist for approximately 5% of known rare diseases¹. Many rare diseases remain poorly understood, with limited knowledge of their mechanisms, few validated biomarkers, and no established therapeutic approaches – representing an enormous area of unmet medical need.

At the same time, rare diseases are also an area of strategic importance for Europe. Over 70% of rare diseases are genetic in origin and research in this area has been at the forefront of biotechnology innovation. Rare disease research has played a key role in the early validation of therapeutic platforms, including adeno-associated virus (AAV) gene therapies, whose success has since opened up new possibilities across medicine more broadly. And as small and heterogeneous patient populations with rare conditions make conventional clinical trial designs poorly suited to generating the evidence required, researchers and regulators have had to embrace and refine alternative approaches. Adaptive trial designs, real-world evidence, platform technologies, are some of the tools refined in rare disease research because conventional methods could not work at very small scale. Europe’s advantage in biotechnology has, and will continue to be built, in significant part, on rare disease science.

Europe is building up distinct advantages in this field. Its 24 European Reference Networks connect specialist clinical centres across all Member States, sharing expertise and patient data at a scale that has no equivalent elsewhere. Its orphan medicines framework, has generated a quarter-century of regulatory experience and institutional knowledge in bringing complex therapies to small patient populations.

And the European Rare Diseases Research Alliance (ERDERA) has built a collaborative research infrastructure – spanning registries, data networks, and patient partnerships – that is genuinely world-leading. These are the foundations on which a globally competitive rare disease biotech strategy can be built.

The proposed Biotech Act responds to several of these challenges. Facilitating clinical trials in Europe, especially those multi-national, while keeping the high-level quality of trials in Europe² – is a meaningful step for rare disease patients. The shortening of authorisation timelines and streamlining of procedures are welcome steps; however, they will require adequate resources for authorities to meet these standards without relaxing safeguards or bypassing key steps, including patients’ involvement. 

Through a dedicated investment pilot and associated initiatives, the Biotech Act I also takes concrete steps to mobilise public and private capital across the biotech lifecycle. It will be crucial that these measures that matter directly for the smaller companies, are also extended to academic institutions, and non-profit organisations on whom rare disease development often depends³.

There is also a real opportunity to go further. Formally empowering ERNs as platforms for cross-border clinical trial recruitment would transform an underutilised asset into an active engine of rare disease research. EU-funded shared infrastructure for platform technologies – modular, reusable scientific tools that developers can access and adapt across rare disease applications – would also be transformative.

COVID-19 demonstrated what becomes possible when foundational scientific platforms already exist. Building equivalent infrastructure for rare disease gene therapies, cell therapies, and RNA-based medicines would have lasting effects on Europe’s capacity.

Underpinning all of this is a principle the Biotech Act must embed more firmly: patient involvement is not only a matter of governance. This is a scientific and regulatory necessity. In ATMP development in particular, where therapies are often first-in-class and patient populations extremely small, the ability to define meaningful outcomes and relevant endpoints depends critically on patient knowledge and experience. What constitutes meaningful benefit for patients living with degenerative conditions may differ substantially from conventional clinical assumptions, and that difference matters for trial design, regulatory assessment, and for whether a therapy reaches the patients who need it. Embedding patients as genuine scientific partners – with the training, resources, and structural access to contribute at every stage of the development pathway – is therefore not a peripheral concern for the Biotech Act. It is central to whether the evidence it helps generate is fit for purpose.

The Draghi and Letta reports were unambiguous: Europe must invest in sectors where it has distinctive advantages and convert them into economic strength. 

The Biotech Act I’s measure of success will be whether it accelerates the development of therapies for patients most in need, including those in the most underserved areas, while building the industrial and scientific capacity Europe needs to compete. In rare disease biotechnology, those two objectives converge.

1 Nguengang Wakap, S. et al. (2020) ‘Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database’, European Journal of Human Genetics, 28(2), pp. 165–173. https://doi.org/10.1038/s41431-019-0508-0 

2 European Commission (2025) Proposal for a Regulation of the European Parliament and of the Council establishing a framework of measures for strengthening the Union’s biotechnology and biomanufacturing sectors, particularly in the area of health (COM(2025) 1022 final). Brussels: European Commission. Available at: https://eur-lex.europa.eu/legal-content/EN/TXT/?uri=COM:2025:1022:FIN

3 Ibid