Follow us on X
Follow us on LinkedIn
Follow us on Youtube
Discover RISE d.o.o


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


In the EU alone, roughly 30 million people are affected by one of the more than 6,000 different rare diseases (RDs) of which 72% are genetic and 70% affect children. The path to diagnosis for people suffering from a RD is burdensome, often severely delayed by a diagnostic odyssey. This unacceptable situation does not meet the concept of equity for EU citizens, and requires rapid, structured, and cost-effective corrective actions. The Screen4Care (S4C) consortium will leverage the genomic and digital advent to develop and pilot genetic NBS and AI-guided symptom recognition algorithms, while accounting for all relevant legal, regulatory and ethical considerations. S4C aims to harmonize the results of existing efforts in a horizon scan, by looking at the totality of the available data resources, diagnostic algorithms, and other initiatives with similar ultimate goals. S4C will also provide two digital diagnosis support systems for RD on the basis of features and symptom complexes.

Professor Alessandra Ferlini
University of Ferrara
Phone: +39 532974439
Horizon 2020 & sub-programmes
60 months (October 2021 - September 2026)
Project funding
€ 25,038,568.00
Project partners
Project website
Your contact
Yuliia Hornitska
Senior Project Manager
About Eurice

Eurice offers knowledge-based consultancy services in project and innovation management.

Eurice Head Office
Heinrich-Hertz-Allee 1
66386 St. Ingbert
Phone: +49 6894 388130
Eurice Berlin
Alt-Reinickendorf 25
13407 Berlin
Phone: +49 30 374415840