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Julho 2022

Building the future of a rare disease ecosystem: In conversation with Professor Hans-Georg Eichler


With the 11th European Conference on Rare Diseases and Orphan Products just around the corner, we asked Professor Hans-Georg Eichler — consultant physician and passionate advocate for the rare disease community, to share his expertise on rare disease research and innovation. As one of the goal leaders of the conference, he furthermore addresses how the ECRD fosters a health data ecosystem, which could fully translate the potential of science and technology for rare diseases.

How ‘rare’ is a rare disease? 

According to the Rare 2030 Recommendations, rare diseases are a “heterogeneous group of largely incurable, often complex conditions” [1]. Although individually uncommon, rare diseases touch the lives of more than 30 million people across Europe and 300 million people worldwide. Despite these staggering numbers, the complexity of rare conditions means that research is constantly barred by a scarcity of knowledge and lack of shared expertise. Professor Eichler points out that, when dealing with small patient populations, orphan drug research is prone to a much wider margin of error than the development of medicines for more common diseases.

Data sharing: the future of rare disease healthcare?

“Can we make better use of health data and how we generate, analyse, and distribute it? The answer is absolutely yes. We have a lot of room for improvement.”

Professor Eichler believes that health data sharing could be a crucial puzzle piece leading to breakthroughs in treatment innovation. What’s more — patient organisations have a significantly large role to play in “lobbying for the best use of data” at both primary and secondary level. The lack of an adequate infrastructure for information sharing is arguably one of the main obstacles to progress in rare disease research. Geographically dispersed patient populations complicate this dilemma even further.

In overcoming these challenges, initiatives such as the European Health Data Space (EHDS) — a health governance framework proposed by the European Commission, provide an unprecedented opportunity for efficient sharing of health data. Once optimised, data sharing would considerably advance the development of rare disease therapies, diagnosis, and policy-making.

ECRD: leading the discussion on health data

“The ECRD brings these issues to the fore and stimulates explicit discussion. It could take us a step further in addressing these open questions.” 

Professor Eichler concludes that, despite our awareness of the ‘simmering issues’ within healthcare systems, we cannot fully address these problems without devising an actionable plan. Although challenging, the ECRD believes that building a cohesive European rare disease health data ecosystem is not however impossible.

Tracks E and F of the conference spark dialogue between stakeholders to explore the full potential of health data sharing. In particular, the conference assesses how Europe can foster resilient infrastructures to facilitate the exchange of data. By brainstorming together the creation of a cohesive rare disease ecosystem, the ECRD marks an ambitious yet monumental step towards transforming our collective vision into reality. 

Register now to join in on the discussion, or discover the programme here. For any questions regarding ECRD 2022, contact Martina Bergna, EURORDIS Events Manager: martina.bergna@eurordis.org.

[1] EURORDIS – Rare Diseases Europe: Recommendations From The Rare 2030 Foresight Study, 2021


By Rose Wei, EURORDIS Digital Communications Intern