Peer-Reviewed Publication
Orphanet J Rare Dis2025;20(1):231.May 15, 2025Journal Article
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.
Christina Saier1,2, Stefaan Sansen3, Joanne Berghout4, Kathrin Freyler1, Moshe Einhorn5, Yaron Einhorn5, Leslie Matalonga6, Sergi Beltran6, Antonio Novelli7, Rita Selvatici8, Fernanda Fortunato9, Silvia Montanari9, Maria Martinez-Fresno10, Gulcin Gumus11, Emanuele Agolini7, Nicolas Garnier4,12, Alessandra Ferlini9, Enrico Bertini13, Janbernd Kirschner14
1Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Breisacher Str. 62, 79106, Freiburg, Germany.
2Department of Laboratory Medicine, Unit II LM-CC, University Hospital Halle (Saale), Halle (Saale), Germany.
3Sanofi, Diegem, Belgium.
4Pfizer Inc, Cambridge, MA, United States of America.
5Genoox, Tel Aviv, Israel.
6Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
7Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
8Consorzio Futuro in Ricerca, Ferrara, Italy.
9Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
10llumina, Inc, San Diego, CA, USA.
11EURORDIS Rare Disease Europe, Sant Antoni Maria Claret 167, Barcelona, 08025, Spain.
12Servier Affaires Médicales, Suresnes, France.
13Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
14Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Breisacher Str. 62, 79106, Freiburg, Germany. Janbernd.kirschner@uniklinik-freiburg.de.
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 develop a systematic approach for selecting treatable rare diseases (RDs) for inclusion in gNBS through the creat…
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