Peer-Reviewed Publication
Front Public Health2026;141822461.January 1, 2026Journal Article
European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.
Fernanda Fortunato1,2, Rita Selvatici1,2, Jan Kirschner3, Stefaan Sansen4, Emanuele Agolini5, Silvia Ottombrino5, Enrico Bertini5, Antonio Novelli5, Moshe Einhorn6, Leslie Matalonga7, Sergi Beltran7, Ivo G Gut7, Alberto M Pereira8, Olaf Hiort9, Franz Schaefer10, Alain Verloes11, Ansgar W Lohse12, Arthur A M Wilde13, Christine Bodemer14, Guillaume Jondeau15, Hélène Dollfus16, Holm Graessner17, Irene M J Mathijssen18, Ikram L'khssim18, Jean-Yves Blay19, Luca Sangiorgi20, Pierre Fenaux21, María Del Mar Mañú Pereira22, Victoria Gutiérrez Valle22, Marta Mosca23, Nicoline Hoogerbrugge24, Rene Wijnen25, Teresinha Evangelista26, Carla D'Angelo26, Thomas O F Wagner27, Wout F J Feitz28, Ruth Ladenstein29, Zoltan Dobai29, Nico Wulffraat30, Nicola Ruperto31, Paloma Jara Vega32, Cinzia Maria Bellettato33, Maurizio Scarpa33, Michela Onali34, Sébile Tchaicha35, Alexis Arzimanoglou35, Jun Oh36, Dominic Lenz37, Birute Tumiene38, Aldona Zygmunt39, Alessandra Ferlini1,2
1Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
2Department of Mother and Child, University Hospital S. Anna, Ferrara, Italy.
3Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
4Sanofi, Diegem, Belgium.
5Laboratory of Medical Genetics, Translational Cytogenomics Research Unit & Research Unit of Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
6Genoox, Tel Aviv, Israel.
7Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
8Department of Endocrinology and Metabolism, Amsterdam UMC, Location University of Amsterdam, Amsterdam, Netherlands.
9Division of Pediatric Endocrinology and Diabetes, Department of Pediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany.
10Center of Pediatric and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.
11Department of Genetics, APHP-Robert Debré University Hospital, Université de Paris, Paris, France.
12Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
13Department of Clinical Cardiology, Heart Center, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.
14Department of Dermatology, Necker Enfants Malades Hospital, AP-HP Center-Paris University, Paris, France.
15Hospital Bichat-Claude Bernard, APHP, Université Paris Cité, Paris, France.
16Institut de Génétique Médicale d'Alsace, University Hospital of Strasbourg and Strasbourg University, Strasbourg, France.
17Centre for Rare Diseases and Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
18Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus University Medical Center, Rotterdam, Netherlands.
19Centre Léon Bérard, Université Claude Bernard Lyon I, and Center de Recherche en Cancérologie de Lyon, Lyon, France.
20Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
21Saint Louis Hospital, Paris Cité University, Paris, France.
22Group of Translational Research in Cancer and Blood disorders in Children, Rare Anemia Disorders Research Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain.
23Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana and University of Pisa, Pisa, Italy.
24Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
25Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.
26Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
27University Hospital Frankfurt, Frankfurt, Germany.
28Department of Urology, Radboud University Medical Center Amalia Children's Hospital, Nijmegen, Netherlands.
29Department of Pediatrics, St. Anna Children's Hospital and St Anna Children's Cancer Research Institute, Medical University of Vienna, Vienna, Austria.
30Department of Pediatric Rheumatology and Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.
31UOC Reumatologia e Malattie Autoinfiammatorie, IRCCS Istituto G. Gaslini, Genova, Italy.
32Department of Pediatric Hepatology, La Paz University Hospital, Molecular Hepatology Group, La Paz Institute of Biomedical Research (IdiPAZ), Madrid, Spain.
33Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.
34ERN EURO-NMD Patient Advisory Board, Paris, France.
35Hospital Sant Joan de Déu, Barcelona, Spain.
36Department of Pediatric Nephrology, Medical University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
37Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Medical Faculty, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.
38Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
39Pfizer Inc., Collegeville, Pennsylvania, PA, United States.
Abstract
Rare diseases (RDs), affecting fewer than 5 people per 10,000, present unique challenges to usual care pathways due to their unique characteristics: rarity and large number of disease entities, heterogeneous clinical manifestations and genetic causes, multisystemic involvement, and high complexity of diagnosis and treatment. This complexity often hampers the setting of appropriate pathways of care…
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