Eurordis - Rare Disease Europe

We are delighted that this Strategy clearly acknowledges the central role rare diseases must play in Europe’s life sciences ambition.

Today, 95% of rare diseases still lack an approved treatment – a staggering gap that demands urgent scientific and policy action. But rare diseases are not only defined by unmet need; they are also powerful engines of innovation. More than 70% have a genetic origin, making them ideal candidates for breakthroughs in genomics, diagnostics, and advanced therapies – many of which are now being applied to more common conditions. Several EU countries have already used rare diseases as launchpads for progress in precision medicine. By scaling this approach, the EU has a real opportunity to restore its global leadership in life sciences.

In this context, the Commission’s explicit focuses on rare diseases – alongside its support for advanced therapies, multi-country clinical trials, and more adaptive regulatory tools – is both timely and essential.

We are deeply grateful that the European Commission has listened to our community’s voices. Many of the priorities we have long championed – from strengthening European Reference Networks to cross-border research and investing in workforce and manufacturing capacity, to improving data use through interoperability – are clearly embedded in this Strategy.

We nonetheless also welcome that progress will be tracked through indicators such as business investment in R&D and the number of multi-country clinical trials – both of which are critical to advancing innovation in areas like rare diseases, where research is often underfunded and patient populations too small to be addressed at national level alone.

What matters now is that implementation is bold, well-resourced, and inclusive of patient organisations at every step – including through meaningful participation in the new Life Sciences Coordination Board. Regulation must work not only for large companies, but also for academic researchers and non-profit developers working on the most neglected conditions.

It is also essential that new investment platforms – such as the strategic interface linking startups, investors, and industry – ensure equitable access for rare disease innovators, especially early-stage, high-risk ventures with strong public value but limited commercial backing.

As Europe pioneers advanced therapies, trust-building must remain a priority. We strongly support the Commission’s plans for citizen engagement and public dialogue around biotechnology and ATMPs – embedding societal values from the outset will be key to long-term success.

With the right coordination and investment, including dedicated funding commitments and fresh earmarked resources, this Strategy can signify the beginning of a new era for rare disease research and care in Europe – one that turns scientific promise into lasting change for millions of families.