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
Description
ISSN:1750-1172
DOI:10.1186/s13023-026-04341-2