What are European Reference Networks (ERNs)?
ERNs are virtual networks that bring together hospitals, medical specialists, patient representatives and researchers across Europeto share expertise on rare diseases. There are 24 separagte ERNs each addressing different areas of medicine, for example metabolic diseases, heart diseases, eye diseases , etc.
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 and trials.
ERNs help patients in several important ways:
- Better care: Doctors can consult ERN across Europe to make sure patients get the right diagnosis and treatment.
- The Information Travels – Not the Patient: Virtual consultations between ERN experts mean patients don’t always have to travel abroad for specialist care; instead, the expert knowledge travels to the patient through their consultant in Ireland engaging in the virtual consultations.
- 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, patients cannot contact ERNs directly but should talk to their doctor or specialist. If your healthcare provider is part of an ERN, they can consult with experts to support your care.
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 of an ERN. 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 anonymously, 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 clinician in an expert centre that is a member of ERN RITA (which specialises in rare immunological disorders) was treating a patient with a challenging condition which was not responding to treatment. The doctor discussed with the patient the option of consulting with ERN colleagues for advice. The patient agreed and consented to their information being uploaded to CPMS. The clinician used the CPMS to seek advice from other experts. 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 locate ERNs involved in Ireland and other countries?
You can access the European Commission ERN Service Directory.
This Service Directory is a searchable online directory that includes details on the 24 ERNs, their member hospitals, clinical and research centres, and healthcare providers by country, as well as the specific diseases they cover.
It helps patients, healthcare professionals and researchers locate specialised expertise on rare diseases and complex conditions across Europe.
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 their legal framework, is to provide highly specialised healthcare for both people living with "rare diseases” or “low prevalence and complex diseases or conditions".
Where to find more help and information:
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. The NRDO in collaboration with its stakeholders and partners, is responsible for driving the implementation of the Rare Disease Strategy 2025-2030.
The NRDO has developed a series of integrated care pathways for rare diseases These care pathways are based on clinical practice guidelines and developed in collaboration with national clinical experts and Irish patient organisations.
National Rare Disease Information Service
The National Rare Disease Information Service, managed by the NRDO, provides current and evidenced based information on rare conditions and signposts to available rare disease expertise, supports and resources
If you have a query regarding rare diseases, rare disease expertise, supports and resources you can email rare.diseases@mater.ie
Rare Ireland
Rare Ireland (rareireland.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 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.
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.
EU4Health Joint Action – JARDIN
JARDIN is a Joint Action created to achieve the integration of the ERNs into national healthcare systems.
The EU has funded this pioneering 3-year project involving all Member States plus Norway and Ukraine with the specific aim of reducing the diagnostic odyssey through improving patients access to ERNs across Europe.
To achieve its objectives, JARDIN is organised around nine work packages. The project will produce recommendations, and implementation pilots in the main fields of action, such as patient pathways, national reference networks, and data management for rare diseases or complex conditions.
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
