TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

Abstract Background Genomic newborn screening (gNBS) offers the potential to detect genetic conditions early, enhancing outcomes through timely treatment. It can serve as an additional tool to identify conditions that are not detectable via metabolic screening. The Screen4Care project seeks to devel...

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Main Authors: Christina Saier, Stefaan Sansen, Joanne Berghout, Kathrin Freyler, Moshe Einhorn, Yaron Einhorn, Leslie Matalonga, Sergi Beltran, Antonio Novelli, Rita Selvatici, Fernanda Fortunato, Silvia Montanari, Maria Martinez-Fresno, Gulcin Gumus, Emanuele Agolini, Nicolas Garnier, Alessandra Ferlini, Enrico Bertini, Janbernd Kirschner
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Treatable diseases
Rare diseases
Newborn screening
Genetic
Paediatric
Diagnosis
Online Access:https://doi.org/10.1186/s13023-025-03692-6
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