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

Informations projet

SCREEN4CARE

N° de convention de subvention: 101034427

DOI 10.3030/101034427

Date de signature de la CE 13 Octobre 2021

Date de début 1 Octobre 2021

Date de fin 30 Septembre 2026

Financé au titre de

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

Coût total € 26 247 174,00

Contribution de l’UE € 11 938 568,75

Coordonné par

UNIVERSITA DEGLI STUDI DI FERRARA
Italy

Livrables

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

Auteurs: Markus, M. Andrea; Ferrari, Daniele P.; Alves, Frauke; Ramos-Gomes, Fernanda
Publié dans: Optica Publishing Group, Numéro Vol. 14, Numéro 8, 2023, Page(s) 3988-4002, ISSN 2156-7085
Éditeur: The Optical Society
DOI: 10.1364/boe.488453

Other (1)

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Auteurs: 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
Publié dans: Int. J. Neonatal Screening, 2022
Éditeur: Int. J. Neonatal Screening
DOI: 10.3390/ijns8030040