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

Deliverables

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

Publications

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

Author(s): Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov, Rumen Stefanov
Published in: Orphanet Journal of Rare Diseases, Issue 19, 2024, ISSN 1750-1172
Publisher: 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

Author(s): Sandra Gillner
Published in: Social Science & Medicine, 2023, ISSN 0277-9536
Publisher: Pergamon Press Ltd.

The Modernisation of Newborn Screening as a Pan-European Challenge–An International Delphi Study

Author(s): 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
Published in: Social Science & Medicine, 2024, ISSN 0168-8510
Publisher: Elsevier BV

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

Author(s): Markus, M. Andrea; Ferrari, Daniele P.; Alves, Frauke; Ramos-Gomes, Fernanda
Published in: Optica Publishing Group, Issue Vol. 14, Issue 8, 2023, Page(s) 3988-4002, ISSN 2156-7085
Publisher: 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

Author(s): 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
Published in: Orphanet Journal of Rare Diseases, Issue 18, 2023, ISSN 1750-1172
Publisher: 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

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

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial

Author(s): 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 Schwe
Published in: JAMA Pediatrics, Issue 178(6):540-547, 2024, ISSN 2168-6203
Publisher: American Medical Association

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

Author(s): 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
Published in: PLOS ONE, Issue 18, 2023, Page(s) e0293503, ISSN 1932-6203
Publisher: 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

Author(s): 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
Published in: Orphanet Journal of Rare Diseases, Issue 147 (2024), 2024, ISSN 1750-1172
Publisher: 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

Author(s): 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
Published in: Nature Communications, Issue 15(1):7843, 2024, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.21203/rs.3.rs-3731485/v1

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

Author(s): Sylvia MARTIN ,1 Emanuele Angolini,2 Jennifer Audi,3 Enrico Bertini,2 Lucia Pia Bruno,4,5 Joshua Coulter,6 Alessandra Ferlini,7 Fernanda Fortunato,7 Vera Frankova,8 Nicolas Garnier,6 Åsa Grauman,1 Edith Gross,9 Brett Hauber,6 Mats Hansson,1 Janbernd Kirschner ,10 Ferdinand Knieling,11 Gergana Kyosovksa,12 Silvia Ottombrino,2 Antonio Novelli,2 Roman Raming,11 Stefaan Sansen,13 Christina Saier,14 J
Published in: BMJ Open, 2024, ISSN 2044-6055
Publisher: BMJ Publishing Group

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

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

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

Author(s): 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)
Published in: medRxiv [Preprint], Issue 2024 Sep 16:2024.03.24.24304797, 2024, ISSN 2692-8205
Publisher: Cold Spring Harbor Laboratory

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

Author(s): Hübner M, Nyoungui E, Gazzero E, Hassoun L, Zschüntzsch J, Krefting D, Schepers J, Röttgerd R.
Published in: Studies in Health Technology and Informatics, Issue 316:1418-1419, 2024, ISSN 0926-9630
Publisher: IOS Press

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Author(s): 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
Published in: Int. J. Neonatal Screening, 2022
Publisher: Int. J. Neonatal Screening
DOI: 10.3390/ijns8030040

Deliverables

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