Project overall strategic goals

Screen4Care offers an innovative research approach to accelerate rare disease diagnosis, which is based on two central pillars: genetic newborn screening and digital technologies. People living with rare diseases often find themselves on a burdensome diagnosis journey, enduring on average eight years of inconclusive consultations and possible misdiagnoses, leading to ineffective treatments and inefficient healthcare resource utilisation.
Screen4Care aims to meet the pressing need for an accelerated rare diseases diagnosis framework. It offers a novel approach based on the following two central pillars: genetic newborn screening and digital technologies.

Short description of the main outputs of the project/coalition

The first central pillar of Screen4Care’s dual approach is genetic newborn screening, which is anticipated to be an effective tool for the early diagnosis of rare diseases, since over

The second central pillar of Screen4Care includes innovative digital solutions, such as the Screen4Care Meta-Symptom Checker and the Screen4Care Virtual Clinic. Screen4Care aims to use the power of these digital tools to improve the accuracy and speed of patient diagnosis via two routes: Predictive algorithms, leveraging the Screen4Care data (federated) machine learning environment and embedded Electronic Health Record (EHR) systems that will flag patients at risk for rare diseases based on the data in their EHR.

The Screen4Care Meta-Symptom Checker will help people living with rare diseases who are “cycling” with their symptoms, moving from one doctor to another, and often searching the internet for symptom checkers to understand the cause of their symptoms.

The Screen4Care Virtual Clinic will complement those approaches and provide support along the path from rare disease symptoms and suspicion to a proper diagnosis. It will also offer ongoing support post-diagnosis, with specific spaces for patients and families to meet, share experiences, network and find human support as well.

How does the project/coalition address the specificities of the white spots?

70% are of genetic origin of which almost 90% affect children. Typically, genetic newborn screening is a public health programme through which newborns are tested shortly after birth to identify those who are likely to develop a condition that may not be clinically evident in the newborn period yet.
We strongly believe that this approach will incraese the knowledge on the rare diseases whites spots where there is no science nor translational capabiblities yet.

How is the project/coalition a public-private partnership? 

The Screen4Care project is funded by the Innovative Medicines Initaitive which is a partnership between public institutions such as academic centers, patient groups and pharmaceutical and diagnostics private companies.