Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies

Informations projet

SCREEN4CARE

N° de convention de subvention: 101034427

DOI

10.3030/101034427

Date de signature de la CE 13 Octobre 2021

Date de début 1 Octobre 2021

Date de fin 30 Septembre 2026

Financé au titre de

• SOCIETAL CHALLENGES - Health, demographic change and well-being

Coût total

€ 26 247 174,00

Contribution de l’UE

€ 11 938 568,75

Coordonné par

UNIVERSITA DEGLI STUDI DI FERRARA
Italy

CORDIS fournit des liens vers les livrables publics et les publications des projets HORIZON.

Les liens vers les livrables et les publications des projets du 7e PC, ainsi que les liens vers certains types de résultats spécifiques tels que les jeux de données et les logiciels, sont récupérés dynamiquement sur OpenAIRE .

Livrables

Websites, patent fillings, videos etc. (2)

Project Website
Audio-visual material 1

Demonstrators, pilots, prototypes (1)

Viable implementation of the metadata repository incl. report on data access right management

Documents, reports (1)

Initial Definition of the CDM

Publications

Peer reviewed articles (12)

Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study

Auteurs: Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov, Rumen Stefanov
Publié dans: Orphanet Journal of Rare Diseases, Numéro 19, 2024, ISSN 1750-1172
Éditeur: BioMed Central
DOI: 10.1186/s13023-024-03047-7

We're implementing AI now, so why not ask us what to do? – How AI providers perceive and navigate the spread of diagnostic AI in complex healthcare systems

Auteurs: Sandra Gillner
Publié dans: Social Science & Medicine, Numéro 340, 2024, Page(s) 116442, ISSN 0277-9536
Éditeur: Pergamon Press Ltd.
DOI: 10.1016/j.socscimed.2023.116442

The modernisation of newborn screening as a pan-European challenge – An international delphi study

Auteurs: Sandra Gillner, Gulcin Gumus, Edith Gross, Georgi Iskrov, Ralitsa Raycheva, Georgi Stefanov, Rumen Stefanov, Anne-Sophie Chalandon, Alicia Granados, Julian Nam, Andreas Clemens, Carl Rudolf Blankart
Publié dans: Health Policy, Numéro 149, 2024, Page(s) 105162, ISSN 0168-8510
Éditeur: Elsevier BV
DOI: 10.1016/j.healthpol.2024.105162

Effect of tissue fixation on the optical properties of structural components assessed by non-linear microscopy imaging

Auteurs: Markus, M. Andrea; Ferrari, Daniele P.; Alves, Frauke; Ramos-Gomes, Fernanda
Publié dans: Optica Publishing Group, Numéro Vol. 14, Numéro 8, 2023, Page(s) 3988-4002, ISSN 2156-7085
Éditeur: The Optical Society
DOI: 10.1364/boe.488453

Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project

Auteurs: Alessandra Ferlini, Edith Sky Gross, Nicolas Garnier, null null, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad Ly
Publié dans: Orphanet Journal of Rare Diseases, Numéro 18, 2023, ISSN 1750-1172
Éditeur: BioMed Central
DOI: 10.1186/s13023-023-02916-x

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review

Auteurs: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Nataliya Bogoeva, Georgi Iskrov, Georgi Stefanov, Rumen Stefanov
Publié dans: Frontiers in Public Health, 2023, Page(s) 11, ISSN 2296-2565
Éditeur: Frontiers in Public Health
DOI: 10.3389/fpubh.2023.1214766

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy

Auteurs: Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, Max Behrens, Claudia Weiß, Jessika Johannsen, Johannes Friese, Andreas Hahn, Andreas Ziegler, Sabine Illsinger, Martin Smitka, Arpad von Moers, Heike Kölbel, Gudrun Schreiber, Nadja Kaiser, Ekkehard Wilichowski, Marina Flotats-Bastardas, Ralf A. Husain, Matthias Baumann, Cornelia Köhler, Regina Trollmann, Annette Schwerin-Nagel, Astrid Ei
Publié dans: JAMA Pediatrics, Numéro 178, 2024, Page(s) 540, ISSN 2168-6203
Éditeur: American Medical Association
DOI: 10.1001/jamapediatrics.2024.0492

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

Auteurs: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Mart
Publié dans: PLOS ONE, Numéro 18, 2023, Page(s) e0293503, ISSN 1932-6203
Éditeur: Public Library of Science
DOI: 10.1371/journal.pone.0293503

Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening

Auteurs: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Georgi Iskrov, Georgi Stefanov, Merja Vakevainen, Kaisa Elomaa, Yuen-Sum Man, Edith Gross, Jana Zschüntzsch, Richard Röttger, Rumen Stefanov
Publié dans: Orphanet Journal of Rare Diseases, Numéro 147 (2024), 2024, ISSN 1750-1172
Éditeur: BioMed Central
DOI: 10.21203/rs.3.rs-3448625/v1

Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in Late-onset Pompe disease

Auteurs: Ferdinand Knieling, Lina Tan, Jana Zschüntzsch, Stefanie Meyer, Alica Stobbe, Hannah Bruex, Adrian Regensburger, Frauke Alves, Jörg Jüngert, Ulrich Rother, Yi Li, Vera Danko, Werner Lang, Matthias Türk, Sandy Schmidt, Matthias Vorgerd, Lara Schlaffke, Joachim Wölfle, Andreas Hahn, Alexander Mensch, Martin Winterholler, Regina Trollmann, Rafael Heiß, Alexandra Wagner, Roman Raming
Publié dans: Nature Communications, Numéro 15(1):7843, 2024, ISSN 2041-1723
Éditeur: Nature Publishing Group
DOI: 10.21203/rs.3.rs-3731485/v1

Patient preferences in genetic newborn screening for rare diseases: study protocol

Auteurs: Sylvia MARTIN, Emanuele Angolini, Jennifer Audi, Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Alessandra Ferlini, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Åsa Grauman, Edith Gross, Brett Hauber, Mats Hansson, Janbernd Kirschner, Ferdinand Knieling, Gergana Kyosovksa, Silvia Ottombrino, Antonio Novelli, Roman Raming, Stefaan Sansen, Christina Saier, Jorien Veldwijk
Publié dans: BMJ Open, Numéro 14, 2024, Page(s) e081835, ISSN 2044-6055
Éditeur: BMJ Publishing Group
DOI: 10.1136/bmjopen-2023-081835

Genomic newborn screening: Are we entering a new era of screening?

Auteurs: Ute Spiekerkoetter, David Bick, Richard Scott, Henrietta Hopkins, Tanja Krones, Edith Sky Gross, James R. Bonham
Publié dans: Journal of Inherited Metabolic Disease, 2023, Page(s) 759-1003, ISSN 1573-2665
Éditeur: John Wiley & Sons Ltd
DOI: 10.1002/jimd.12650

Other (2)

Data-driven prioritization of genetic disorders for global genomic newborn screening programs

Auteurs: Minten T, Gold NB, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D, Green RC; International Consortium on Newborn Sequencing (ICoNS)
Publié dans: medRxiv [Preprint], Numéro 2024 Sep 16:2024.03.24.24304797, 2024, ISSN 2692-8205
Éditeur: Cold Spring Harbor Laboratory

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Auteurs: Avid Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey and Richard H. Scott
Publié dans: Int. J. Neonatal Screening, 2022
Éditeur: Int. J. Neonatal Screening
DOI: 10.3390/ijns8030040

Book chapters (1)

Improving Clinical Documentation of Rare Neuromuscular Diseases: Development of a Standardised Information Model

Auteurs: Miriam Hübner, Elisabeth Nyoungui, Elisabetta Gazzero, Lina Hassoun, Jana Zschüntzsch, Dagmar Krefting, Josef Schepers, Richard Röttgerd
Publié dans: Studies in Health Technology and Informatics, Digital Health and Informatics Innovations for Sustainable Health Care Systems, 2024, ISSN 0926-9630
Éditeur: IOS Press
DOI: 10.3233/shti240677