Tackling rare diseases through enhanced coordination

European Reference Networks, support for research, and the revision of EU medicines legislation, is key to the Commission’s plans for helping people suffering from rare diseases
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By Sandra Gallina

Sandra Gallina is Director General for the European Commission’s DG Health and Food Safety

28 Feb 2022

Though the name suggests otherwise, rare diseases affect far too many Europeans, with up to 36 million people within the EU suffering from  such diseases. 

Ahead of this year’s Rare Diseases Day, I wish to reaffirm the EU’s unwavering commitment to tackling these illnesses, while also improving the lives of those that they touch.

READ MORE: This article is published as part of our special supplement looking at how Europe can come together to find solutions for people suffering from a rare disease. To read the full supplement click here. 

The prime example of our commitment are the European Reference Networks (ERNs).  They have proven their worth since launching in 2017 by bringing together more than 1500 of the most specialised health care centres across the EU. In January, new ERN members joined the existing 24 networks, almost doubling their size with the technical and financial backing of the Commission.

This cooperation on a grand scale, speeds up diagnosis, improves standards of care and informs patients

This cooperation on a grand scale, speeds up diagnosis, improves standards of care and informs patients. ERNs do the heavy lifting by letting the knowledge travel rather than the patient themselves, allowing them to focus on their own health. This is a core tenet of the Networks.

An important element of the ERN’s activities is their work on establishing EU-wide registries, linking up all existing sources. Once fully operational and populated with clinical data, they will facilitate the development of research in the field of rare diseases, improve both healthcare planning and patient care.

Integrating these registries into the future European Health Data Space will create a sea of opportunities for patients to access their data, and to foster research and innovation.

To boost the impact of ERNs, the Commission is improving their funding under the EU4Health programme.  This not only devotes more resources but also simplifies administrative procedures, allowing healthcare providers to focus on what they do best, taking care of their patients.

The future of ERNs cannot be envisaged without their integration into national systems. The Commission and Member States will start putting this in place later this year with the launch of the Joint Action on the integration of ERNs into the national healthcare systems.

ERNs were designed based on a model of constant improvement. The first evaluation of the ERNs and their members will start this year, and the final reports will be available in 2023. These are concrete examples of our drive to make them better, steering the improvement of this excellent system for the future.

All of this is complemented by the EU’s support for research.  Through its EU Framework Programme for Research and Innovation, Horizon 2020, close to €900 million is being made available to more than 160 collaborative projects related to rare diseases.

 The Commissions’ ambitions extend beyond these already-fruitful measures. By the end of this year, we are planning to propose a revision of the legislation on medicines for rare diseases and will evaluate the Cross-border healthcare directive, including its provisions on cooperation on rare diseases and ERNs.

Much has been done, but there remains a long road ahead.  Rare Diseases Day reminds us why all this work matters, while standing stand by side with those who still need support.

Read the most recent articles written by Sandra Gallina - Breaking barriers: The European Commission’s commitment to tackling rare diseases