European Commission Releases Key Documents on Rare Diseases and European Reference Networks

In anticipation of Rare Disease Day on February 28, 2025, the European Commission has published three key documents highlighting its commitment to improving the lives of patients with rare diseases across Europe. These publications emphasize the role of the European Reference Networks (ERNs) and ongoing efforts to enhance diagnosis, treatment, and research in the field of rare diseases.

The three newly released documents are:

1. Factsheet: How the European Commission Works on Rare Diseases and the European Reference Networks (ERNs)​
2. European Reference Networks: A Success Story for Patients Living with a Rare Disease​
3. Factsheet: EU Delivering on Rare Diseases for Patients and Families

Key highlights from the factsheets

The factsheets reaffirm the EU’s commitment to tackling the unique challenges faced by over 30 million people living with rare diseases across Europe.

1. Strengthening the European Reference Networks (ERNs)

The ERNs, launched in 2017, connect leading experts across Europe to support patients with rare and complex diseases. The documents highlight that:

• 24 ERNs are operational, involving over 1,600 specialized centers across 27 EU Member States and Norway​.
• The ERNs have received €77 million in direct EU funding for 2023-2027 to support patient care, clinical guidelines, and research​.
• The Clinical Patient Management System (CPMS 2.0) has been upgraded to facilitate expert discussions on diagnosis and treatment​.

2. Advancing rare disease research and data sharing

• The EU is prioritizing data accessibility through the European Health Data Space (EHDS), enabling secure cross-border sharing of patient records​.
• The ERDERA Partnership (2025-2031), with a €380 million budget, will fund rare disease research​.
• The EU Rare Disease Platform is improving visibility and interoperability of over 600 rare disease registries​.

3. Improving access to orphan medicines and medical devices

• By the end of 2024, 260 orphan medicines were authorized in the EU, with 140 new designations in that year alone​.
• The European Medicines Agency has launched a pilot program to support the development of orphan medical devices​.
• The JARDIN Initiative, launched in March 2024, is integrating ERNs into national healthcare systems with an €18.75 million budget​.

4. Raising awareness and supporting patients

• The Commission has revamped its Rare Diseases and ERNs website, making information more accessible​.
• New national workshops in several EU countries are educating patients on their rights to cross-border healthcare​.
• The ERNs are working closely with EURORDIS and patient advocacy groups to ensure that patient voices are central to decision-making​.

A significant step towards rare disease care in the EU

The reports provide concrete evidence of the EU’s continued efforts to ensure faster diagnosis, better treatments, and stronger healthcare systems for rare disease patients. As Rare Disease Day 2025 approaches, these publications underscore the vital role of European collaboration in tackling rare diseases.

For further details on the ERNs, visit the European Commission’s Rare ERNs website.