European Reference Networks – a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025

Although individual rare and complex diseases (RDs) affect small patient populations, together they impact an estimated 27–36 million people across the European Union. Addressing this major public health challenge has been a long-term priority for the European Union, leading to the establishment of the European Reference Networks (ERNs) in 2017. ERNs are cross-border networks connecting clinical expert centres to share knowledge, improve and harmonise diagnosis and care for patients with rare and complex diseases. Since their inception, 24 ERNs have united 1,606 expert centres across 375 hospitals in all EU Member States and Norway. Their activities span multidisciplinary clinical collaboration, patient-centred governance, education and training, and the development of clinical guidelines. Over 4900 extremely rare or difficult cases have been discussed among experts without requiring the patients to travel abroad when expertise was not available in their own countries. A key factor for this success is the cross-border IT platform - known as the Clinical Patient Management System 2.0 - provided by the European Commission for medical discussions, which enables experts to share patient data, including medical images and lab results, in a secure and protected environment that is fully compliant with all relevant security and data privacy requirements. ERNs have demonstrated resilience in crises such as the COVID-19 pandemic and the war in Ukraine, providing rapid, coordinated responses to sustain care for vulnerable patient groups. The first formal evaluation in 2023 confirmed that more than 95% of member centres met quality standards, underscoring the networks’ maturity and effectiveness. Moving into the next phase, the Joint Action JARDIN (2024–2027) aims to integrate ERNs into national healthcare systems to ensure sustainability and equitable access to high-quality RD care. ERNs exemplify European solidarity and innovation in healthcare, transforming how rare disease expertise is shared and applied across borders. Their continued integration into national systems will be pivotal to achieving a truly cohesive European Health Union that delivers improved outcomes for all patients with rare and complex diseases.

Authors

Institutions

Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2026-04-14
DOI
https://doi.org/10.1186/s13023-026-04341-2
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

European Reference Networks – a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025

F Schaefer, Guillaume Jondeau, P Fenaux, M Mosca et al.
Orphanet Journal of Rare Diseases
Genomics and Rare Diseases
article

European Reference Networks – a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025

F Schaefer, Guillaume Jondeau, P Fenaux, M Mosca, Sandra Gallina, Alberto M. Pereira, Jean‐Yves Blay, Joost Frans Swart, Luca Sangiorgi, Peter F.A. Mulders, H. Dollfus, Ansgar Wilhelm Lohse, Holm Graeßner, Sophie Ripp, Ruth Ladenstein, Alexis Arzimanoglou, Rene Wijnen, Teresinha Evangelista, Birutė Tumienė, Marjolijn J. L. Ligtenberg, Irene Mathijssen, Arthur A. M. Wilde, Alain Verloes, Thomas Wagner, Francisco Hernández, Maurizio Scarpa, Christine Bodemer
article en

Abstract

Although individual rare and complex diseases (RDs) affect small patient populations, together they impact an estimated 27–36 million people across the European Union. Addressing this major public health challenge has been a long-term priority for the European Union, leading to the establishment of the European Reference Networks (ERNs) in 2017. ERNs are cross-border networks connecting clinical expert centres to share knowledge, improve and harmonise diagnosis and care for patients with rare and complex diseases. Since their inception, 24 ERNs have united 1,606 expert centres across 375 hospitals in all EU Member States and Norway. Their activities span multidisciplinary clinical collaboration, patient-centred governance, education and training, and the development of clinical guidelines. Over 4900 extremely rare or difficult cases have been discussed among experts without requiring the patients to travel abroad when expertise was not available in their own countries. A key factor for this success is the cross-border IT platform - known as the Clinical Patient Management System 2.0 - provided by the European Commission for medical discussions, which enables experts to share patient data, including medical images and lab results, in a secure and protected environment that is fully compliant with all relevant security and data privacy requirements. ERNs have demonstrated resilience in crises such as the COVID-19 pandemic and the war in Ukraine, providing rapid, coordinated responses to sustain care for vulnerable patient groups. The first formal evaluation in 2023 confirmed that more than 95% of member centres met quality standards, underscoring the networks’ maturity and effectiveness. Moving into the next phase, the Joint Action JARDIN (2024–2027) aims to integrate ERNs into national healthcare systems to ensure sustainability and equitable access to high-quality RD care. ERNs exemplify European solidarity and innovation in healthcare, transforming how rare disease expertise is shared and applied across borders. Their continued integration into national systems will be pivotal to achieving a truly cohesive European Health Union that delivers improved outcomes for all patients with rare and complex diseases.

Orphanet Journal of Rare DiseasesVol. 21(1)
Université Claude Bernard Lyon 1 (FR), Goethe University Frankfurt (DE), Hôpital Necker-Enfants Malades (FR), University of Udine (IT), Radboud University Nijmegen (NL), Inserm (FR), Universität Hamburg (DE), Vilnius University (LT), Université Paris Cité (FR), Heidelberg University (DE), Directorate-General for Health and Food Safety (BE), Erasmus MC (NL), University Hospital Heidelberg (DE), Radboud University Medical Center (NL), Institut Necker Enfants Malades (FR), Vilnius University of Applied Sciences (LT), Assistance Publique – Hôpitaux de Paris (FR), Hospital La Paz Institute for Health Research (ES), Centre Léon Bérard (FR), University Medical Center Hamburg-Eppendorf (DE), Institut de Myologie (FR), Hôpital Nord (FR), Cancer Research Institute of the Slovak Academy of Sciences (SK), Istituto Ortopedico Rizzoli (IT), St Anna Children's Hospital (AT), Centre de Recherche en Cancérologie de Lyon (FR), University Children's Hospital Tübingen (DE), Hôpital Robert-Debré (FR), University Hospital Frankfurt (DE), Erasmus MC - Sophia Children’s Hospital (NL), ERN GUARD-Heart (NL), Hôpital Bichat-Claude-Bernard (FR), Hôpitaux Universitaires de Strasbourg (FR), STZ eyetrial (DE), Amsterdam University Medical Centers (NL), Epilepsy Foundation (AU), Wilhelmina Children's Hospital (NL), Azienda Ospedaliera Universitaria Pisana (IT), NeuroDiderot (FR), University of Tübingen (DE), University of Amsterdam (NL), Erasmus University Rotterdam (NL)
Universitätsklinikum Tübingen
Partnerships for the goals
Openalex Percentile: Top 23%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.