TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project
The Screen4Care TREAT-panel provides a curated, scientifically robust gene set for gNBS, focusing on treatable RDs with early onset and clinical actionability. The panel will be tested in a European pilot project involving approximately 20,000 newborns, contributing to the growing body of evidence for the implementation of next-generation sequencing (NGS) in newborn screening programs.
Authors
- Stefaan Sansen
- Moshe Einhorn
- Christina Saier
- Emanuele Agolini (ORCID: https://orcid.org/0000-0001-6543-6225)
- Rita Selvatici (ORCID: https://orcid.org/0000-0002-3099-0100)
- Antonio Novelli (ORCID: https://orcid.org/0000-0002-9037-4297)
- Janbernd Kirschner (ORCID: https://orcid.org/0000-0003-1618-7386)
- F. Fortunato (ORCID: https://orcid.org/0000-0003-0232-196X)
- Joanne Berghout (ORCID: https://orcid.org/0000-0002-9250-9159)
- Alessandra Ferlini (ORCID: https://orcid.org/0000-0001-8385-9870)
- Nicolas Garnier
- Maria Martínez-Fresno
- Sergi Beltrán (ORCID: https://orcid.org/0000-0002-2810-3445)
- Yaron Einhorn
- Gulcin Gumus (ORCID: https://orcid.org/0000-0002-9824-6994)
- Enrico Bertini (ORCID: https://orcid.org/0000-0002-9932-0551)
- Silvia Montanari (ORCID: https://orcid.org/0009-0007-3189-9353)
- Kathrin Freyler
Institutions
- European Organisation for Rare Diseases (FR)
- Illumina (United States) (US)
- Pfizer (United States) (US)
- University of Ferrara (IT)
- University Medical Center Freiburg (DE)
- Consorzio Futuro in Ricerca (IT)
- Sanofi (Belgium) (BE)
- Bambino Gesù Children's Hospital (IT)
- Servier (France) (FR)
- Centro Nacional de Análisis Genómico (ES)
- University Hospital in Halle (DE)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-05-15
- DOI
- https://doi.org/10.1186/s13023-025-03692-6
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63