European Reference Networks (ERNs) For Rare Diseases

The motto of the European Reference Networks is Share, Care and Cure: Connecting Expertise for Better Care for People Living with Rare Diseases

In Europe there are 30 million people affected by a rare or complex disease, and they often struggle to get a timely diagnosis and treatment. No single country has all the expertise or resources needed to treat every rare disease.

European Reference Networks (ERNs) are cross-border virtual networks that bring together European rare disease  expertise to tackle rare, complex diseases and conditions requiring highly specialised healthcare. 

ERNs enable specialists in different countries to collaborate, share knowledge  and provide advice on diagnosis and treatment, particulary when expertise is limited in a specific location or where a condition is ultra-rare.

What activities do ERNs carry out?

ERNs have several key objectives and activities they are required to deliver on.

These activities include:

• Patient Care: Specialists across Europe work together to review rare, and complex cases,, giving advice on diagnosis, treatment and carethrough the Clinical Patient Management System (CPMS). The CPMS is a secure online system where medical details can be safely shared with selected experts, with patient consent. The information and expertise travel rather than the patient.
• Sharing Expertise: ERNs connect experts helping to ensure patients get the best and most up-to-date evidence based care. 
• Guidelines and Pathways: ERNs develop clinical guidelines and care pathways to improve the quality, safety and coordination of care. They also capture the patient journey to better reflect the medical and emotional needs of patients and their families.
• Registries: ERNs support European databases that collect  information about people with rare diseases, including their clinical information, their health outcomes and their demographic data. These registries help researchers and health authorities to better plan health services, understand rare conditions, improve care, monitor safety and design research and clinical trials for new treatments. Registries are valuable tools for both researchers and patients, as they provide essential information for treatment development, can be used to find participants for clinical trials and can connect patients with similar experiences.
• Research: ERNs help identify the most urgent research needs in rare diseases and make sure the patient voice is central. They also support clinical studies and trials, working to develop new treatments and improve care guidelines.

ERNs in Ireland

There are currently 24 ERNs across the EU and Norway created under Directive 2011/24/EU on patients’ rights in cross-border healthcare. 

Ireland actively participates in the ERNs and since 2022, is a member of 18 of the 24 ERNs. Ireland hopes to join the remaining six ERNs when the EU opens the next call for applications. ERN involvement helps connect Irish rare disease experts and services to a wider European community of expertise, supporting better diagnosis, coordinated care and access to evolving clinical guidelines and care pathways.

This collaboration ensures that people living with rare diseases in Ireland can benefit from shared knowledge, best practices and innovation across Europe.

It also enables the sharing of Irish rare disease clinical expertise across Europe, ensuring the patients in other countries can benefit from the experience and innovation developed in Ireland.