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

Project Information

SCREEN4CARE

Grant agreement ID: 101034427

DOI 10.3030/101034427

EC signature date 13 October 2021

Start date 1 October 2021

End date 30 September 2026

Funded under

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

Total cost € 26 247 174,00

EU contribution € 11 938 568,75

Coordinated by

UNIVERSITA DEGLI STUDI DI FERRARA
Italy

Deliverables

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 (1)

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

Other (1)

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