What are European Reference Networks (ERNs)?
ERNs are clinical networks that bring together medical specialists, patient representatives and researchers across Europe into virtual networks to share expertise on rare diseases.
How do they help patients / people living with a rare disease?
ERNs bring together experts from across Europe who specialise in rare diseases. This means that no matter where a patient lives, they can benefit from expert advice, accurate diagnosis, the best available care, and sometimes even access to new treatments.
ERNs help patients in several important ways:
- Better care: Doctors can consult ERN experts to make sure patients get the right diagnosis and treatment.
- The Information Travels – Not the Patient: Virtual consultations mean patients don’t always have to travel abroad for specialist care.
- Safe data sharing: With patient consent, medical information is shared securely with selected experts so they can work together on the best care plan.
Can patients contact ERNs directly?
No. ERNs work through healthcare providers. Patients should speak to their doctor about possible referrals within the national health system to centres that are ERN members.
How can a doctor refer a case to an ERN?
The doctor must be part of an ERN or work in collaboration with a healthcare provider that is a member. They can upload anonymised patient data, with the patient’s permission, to the Clinical Patient Management System (CPMS) to seek advice from other experts in the network.
What is the Clinical Patient Management System (CPMS)?
This is a secure online system where doctors upload patient information, with patient consent, and get advice from ERN experts across Europe. It allows specialists to review cases together, without the patient leaving Ireland.
CPMS in Action - ERN RITA
A medical doctor from an ERN RITA healthcare provider was treating a patient with a challenging refractory disease (dermatomyositis) and turned to the CPMS for advice. The rapid CPMS interaction with ERN RITA specialists across Europe led to the identification of a more effective therapy for the patient.
How can I find an ERN involved in Ireland and other countries?
You can access the European Commission ERN Service Directory. The ERN search tool allows () easy access to information about the European Reference Networks, such as ERN names, places, countries, and clinical centres.
Some ERN websites will mention ERN experts centres within countries and they may also mention patient advocacy organisations that are members in each country.
Are rare diseases only included in the scope of ERNs?
No. While many ERNs focus on rare diseases, they also include low-prevalence and complex conditions requiring specialised resources and expertise.
The scope of the ERNs, as laid out in the legal basis, is to provide highly specialised healthcare for both people living with "rare diseases” or “low prevalence and complex diseases or conditions". The Networks’ objective is to improve the access to diagnosis, treatment and the provision of high-quality healthcare to people who have conditions requiring a particular concentration of resources or expertise.
Where to find more help and information:
Rare Diseases Ireland
Rare Diseases Ireland (rdi.ie) is the national alliance for rare disease patient organisations in Ireland, working across all rare diseases to improve the lives of the estimated 300,000 people living with rare diseases in Ireland.
Rare Ireland
Rare Ireland (rareireland.ie) is a support group dedicated to working on behalf of the rare community, highlighting the needs of families, children and young adults affected by rare conditions and identifying the areas they can influence change and improve services. They provide support for rare disease families by providing an opportunity for rare parents within the network to connect with each other for support, information and advice.
National Rare Diseases Office
The NRDO aims to inform, support and empower people affected by rare conditions, their families and healthcare professionals. It was established by the HSE in 2015 as the national rare disease ‘coordination hub’ and the HSE main contact and driver of rare disease initiatives and projects.
National Rare Disease Information Service
The National Rare Disease Information Service provides current and evidenced based information on rare conditions and signposts to available rare disease expertise, supports and resources
Rare Disease Care Pathways
The National Rare Diseases Office has developed a series of integrated care pathways for rare conditions. These care pathways are based on clinical practice guidelines and developed in collaboration with national clinical experts and Irish patient organisations. Care Pathway development includes mapping of national multidisciplinary Rare Disease expert centres as well as the Orphanet diseases definition and codes
List of approved rare disease care pathways
Orphanet
Orphanet is the largest international Rare Disease information portal. It is a public resource and free for anyone to use. It is a reliable source of information on rare diseases and the information is standardised, validated and curated.
Orphanet enables you to find out about:
- Rare diseases, including signs and symptoms
- National and European centres of expertise for rare diseases
- National and European patient organisations that provide support to people living with rare diseases
- Expert resources including clinical trials, ongoing research projects, medical laboratories and registries
- Clinical Practice Guidelines for some rare diseases
- An inventory of orphan drugs authorised by the European Medicines Agency
Irish data on Orphanet is managed by the HSE’s National Rare Diseases Office. If you want to register your service or information on Orphanet, contact Orphanet Ireland at Orphanet.Ireland@mater.ie.
National Rare Disease Strategy 2025 - 2030
The National Rare Disease Strategy 2025 - 2030 (gov.ie) aims to provide a renewed focus on rare diseases, building on the work of the National Rare Disease Plan for Ireland 2014 - 2018, to meet the needs of people living with rare diseases, their families and healthcare professionals over the next five years.
The vision of this strategy is to ensure that all people living with a rare disease, and their families, have access to equitable, inclusive and cross-sectoral care throughout their life journey that will enable them to reach their full potential and to live their best lives.
The strategy was co-developed with people living with rare diseases, carers, clinicians, healthcare professionals, patient advocates, and researchers. It focuses on four key priorities:
- Earlier and more accurate diagnosis, including expanded newborn screening and better access to genetic services
- Person-centred, integrated care across health and social services, tailored to each person’s journey
- Stronger national and international collaboration, including full integration with all ERNs
- Investment in innovation, research and workforce training to future-proof rare disease care in Ireland
With over 300,000 people in Ireland affected by rare diseases, this strategy is a roadmap for action. It aims to reduce diagnostic delays, improve access to expert care, support mental and social wellbeing, and ensure the rare disease community is a valued and active partner in shaping the services that support them.
