SCREEN4CARE – Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies

Project data

Funding Entity: European Commission

Call: H2020-JTI-IMI2-2020-23-two-stage

Coordinator: Università di Ferrara

UNISI Principal Investigator: Alessandra Renieri

Department: MEDICAL BIOTECHNOLOGIES

Start date: 1 October 2021 – End date: 30 September 2026

 

Description

There are more than 7 000 known rare diseases, condition that affect no more than 1 person in 2 000. Collectively, these conditions that impact up to 36 million people across the EU and will affect 1 in 17 people during their lifetime, are often severe, multisystemic chronic diseases that put patients at risk of permanent organ damage and degeneration. Patients typically face an arduous journey to a proper diagnosis. In this context, the EU-funded SCREEN4CARE project aims to shorten the time to diagnosis and treatment of patients with rare diseases. Bringing together 35 partners in an international public-private consortium, the project will use a multipronged strategy that includes genetic newborn screening and AI-based algorithms to identify patients at early disease onset.

Source: Cordis

Project website

 

This project has received funding from the European Union’s Horizon 2020 programme under GA No 101034427