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

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Title: European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.
Authors: Graessner H; ERN-RND, Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de., Ripp S; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Pereira AM; Department of Endocrinology and Metabolism, Endo-ERN, Amsterdam University Medical Center, Amsterdam, The Netherlands., Schaefer F; Division of Paediatric Nephrology, Center for Pediatrics and Adolescent Medicine, ERKNet, University Hospital, Heidelberg, Germany., Mathijssen I; Department of Plastic, Reconstructive and Hand Surgery, ERN CRANIO, Erasmus Medical Center, Rotterdam, The Netherlands., Blay JY; Department of Medical Oncology, Centre Léon Bérard, Cancer Research Centre of Lyon (CRCL), EURACAN, University Claude Bernard Lyon 1, Lyon, France., Mulders PFA; Department of Urology, ERN eUROGEN, Radboud University Medical Centre, Nijmegen, The Netherlands., Evangelista T; ERN EURO-NMD for Rare Neuromuscular Diseases, Responsible of the Neuromuscular Pathology Functional Unit, Neuropathology Department Hôpital Pitié-Salpêtrière, Paris, France., Ligtenberg MJL; Head Laboratory of Tumour Genetics, Department of Human Genetics, Department of Pathology, Coordinator ERN GENTURIS for Genetic Tumour Risk Syndromes, Radboud University Medical Center, Nijmegen, The Netherlands., Wilde AAM; Department of Cardiology, ERN GUARD-Heart, Amsterdam UMC Location University of Amsterdam, Amsterdam Cardiovascular Science, Heart Failure and Arrhythmias, Amsterdam, The Netherlands., Ladenstein R; ERN PaedCan, Children's Cancer Research Institute - St. Anna Kinderkrebsforschung, Vienna, Austria., Lohse AW; Department of Medicine, ERN RARE-LIVER, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany., Mosca M; Rheumatology Unit, ERN ReCONNET, Azienda Ospedaliero Universitaria Pisana and Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Swart JF; ERN-RITA for Rare Immunological Disorders, Pediatric Rheumatology and Immunology Department, Wilhelmina Children's Hospital / UMC Utrecht, Utrecht, The Netherlands., Hernández F; ERN TransplantChild, Paediatric Surgery Department, La Paz University Hospital, Congenital Malformations and Transplantation Group, La Paz Institute for Health Research (IdiPAZ), Madrid, Spain., Fenaux P; Département d'hématologie et immunologie (DMU), ERN-EuroBloodNet, APHP Nord, Service d'hématologie séniors, Hôpital St Louis, Université Paris Cité, Paris, France., Dollfus H; ERN-EYE, Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, France, Université de Strasbourg, UMRS_1112, Strasbourg, France., Verloes A; Department of Genetics, ERN-ITHACA, AP-HP - Université de Paris, INSERM UMR 1141 'NeuroDiderot', Hôpital Robert Debré, Paris, France., Wagner T; ERN-LUNG, Frankfurt Reference Center for Rare Diseases (FRZSE), Universitätsklinikum Frankfurt am Main, Frankfurt am Main, Germany., Bodemer C; Department of Dermatology Necker Enfants Malades Hospital, ERN-Skin, APHP, Paris Cité University, Paris, France., Wijnen R; Department of Pediatric Surgery, ERNICA, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Scarpa M; Regional Coordinating Center for Rare Diseases, MetabERN, Udine University Hospital, Udine, Italy., Jondeau G; ERN VASCERN for Rare Multisystemic Vascular Diseases, Centre de référence pour le Syndrome de Marfan et Apparentés, Department of Cardiology, AP-HP, Université Paris Cité, Hôpital Bichat-Claude Bernard, INSERM U1148, Hopital Bichat Paris, VASCERN HTAD European Reference Centre, Paris, France., Tumienė B; Faculty of Medicine, Vilnius University, Institute of Biomedical Sciences, Vilnius, Lithuania., Gallina S; Health and Food Safety, European Commission, Bruxelles, Belgium., Arzimanoglou A; ERN EpiCARE for Rare and Complex Epilepsies, Epilepsy Unit, Neurology Department Hospital Sant Joan de Déu, Barcelona, Spain., Sangiorgi L; Department of Rare Skeletal Disorders, ERN BOND, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Apr 14; Vol. 21 (1). Date of Electronic Publication: 2026 Apr 14.
Publication Type: Journal Article; Review
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.
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  Data: <searchLink fieldCode="AU" term="%22Graessner+H%22">Graessner H</searchLink>; ERN-RND, Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.<br /><searchLink fieldCode="AU" term="%22Ripp+S%22">Ripp S</searchLink>; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Pereira+AM%22">Pereira AM</searchLink>; Department of Endocrinology and Metabolism, Endo-ERN, Amsterdam University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schaefer+F%22">Schaefer F</searchLink>; Division of Paediatric Nephrology, Center for Pediatrics and Adolescent Medicine, ERKNet, University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Mathijssen+I%22">Mathijssen I</searchLink>; Department of Plastic, Reconstructive and Hand Surgery, ERN CRANIO, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Blay+JY%22">Blay JY</searchLink>; Department of Medical Oncology, Centre Léon Bérard, Cancer Research Centre of Lyon (CRCL), EURACAN, University Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mulders+PFA%22">Mulders PFA</searchLink>; Department of Urology, ERN eUROGEN, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Evangelista+T%22">Evangelista T</searchLink>; ERN EURO-NMD for Rare Neuromuscular Diseases, Responsible of the Neuromuscular Pathology Functional Unit, Neuropathology Department Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ligtenberg+MJL%22">Ligtenberg MJL</searchLink>; Head Laboratory of Tumour Genetics, Department of Human Genetics, Department of Pathology, Coordinator ERN GENTURIS for Genetic Tumour Risk Syndromes, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wilde+AAM%22">Wilde AAM</searchLink>; Department of Cardiology, ERN GUARD-Heart, Amsterdam UMC Location University of Amsterdam, Amsterdam Cardiovascular Science, Heart Failure and Arrhythmias, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ladenstein+R%22">Ladenstein R</searchLink>; ERN PaedCan, Children's Cancer Research Institute - St. Anna Kinderkrebsforschung, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Lohse+AW%22">Lohse AW</searchLink>; Department of Medicine, ERN RARE-LIVER, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Mosca+M%22">Mosca M</searchLink>; Rheumatology Unit, ERN ReCONNET, Azienda Ospedaliero Universitaria Pisana and Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Swart+JF%22">Swart JF</searchLink>; ERN-RITA for Rare Immunological Disorders, Pediatric Rheumatology and Immunology Department, Wilhelmina Children's Hospital / UMC Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hernández+F%22">Hernández F</searchLink>; ERN TransplantChild, Paediatric Surgery Department, La Paz University Hospital, Congenital Malformations and Transplantation Group, La Paz Institute for Health Research (IdiPAZ), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Fenaux+P%22">Fenaux P</searchLink>; Département d'hématologie et immunologie (DMU), ERN-EuroBloodNet, APHP Nord, Service d'hématologie séniors, Hôpital St Louis, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Dollfus+H%22">Dollfus H</searchLink>; ERN-EYE, Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, France, Université de Strasbourg, UMRS_1112, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Verloes+A%22">Verloes A</searchLink>; Department of Genetics, ERN-ITHACA, AP-HP - Université de Paris, INSERM UMR 1141 'NeuroDiderot', Hôpital Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Wagner+T%22">Wagner T</searchLink>; ERN-LUNG, Frankfurt Reference Center for Rare Diseases (FRZSE), Universitätsklinikum Frankfurt am Main, Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Bodemer+C%22">Bodemer C</searchLink>; Department of Dermatology Necker Enfants Malades Hospital, ERN-Skin, APHP, Paris Cité University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Wijnen+R%22">Wijnen R</searchLink>; Department of Pediatric Surgery, ERNICA, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Scarpa+M%22">Scarpa M</searchLink>; Regional Coordinating Center for Rare Diseases, MetabERN, Udine University Hospital, Udine, Italy.<br /><searchLink fieldCode="AU" term="%22Jondeau+G%22">Jondeau G</searchLink>; ERN VASCERN for Rare Multisystemic Vascular Diseases, Centre de référence pour le Syndrome de Marfan et Apparentés, Department of Cardiology, AP-HP, Université Paris Cité, Hôpital Bichat-Claude Bernard, INSERM U1148, Hopital Bichat Paris, VASCERN HTAD European Reference Centre, Paris, France.<br /><searchLink fieldCode="AU" term="%22Tumienė+B%22">Tumienė B</searchLink>; Faculty of Medicine, Vilnius University, Institute of Biomedical Sciences, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22Gallina+S%22">Gallina S</searchLink>; Health and Food Safety, European Commission, Bruxelles, Belgium.<br /><searchLink fieldCode="AU" term="%22Arzimanoglou+A%22">Arzimanoglou A</searchLink>; ERN EpiCARE for Rare and Complex Epilepsies, Epilepsy Unit, Neurology Department Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Sangiorgi+L%22">Sangiorgi L</searchLink>; Department of Rare Skeletal Disorders, ERN BOND, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Apr 14; Vol. 21 (1). <i>Date of Electronic Publication: </i>2026 Apr 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41981625
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