The Project

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. Diagnosis odysseys and uncertainty around experienced symptoms continue to place a heavy burden on undiagnosed patients, their families, care-takers, doctors and society as a whole...

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Years of


Mio Euro





It was 30 years before we had a diagnosis and could understand my daughter fully. This had a huge impact on our family. Without a diagnosis, we couldn't make decisions on her treatment and care that may have made a difference to her life.

- Rocio, Netherlands

Some patients learn their diagnosis very late. I didn't find out until I was 63.

- Bohuslav, Czech Republic

Diagnosis should be established as quickly as possible so that the person can be treated. I suffer from a rare heart disease that could be fatal if left untreated. I know that it is difficult to diagnose in children but at the slightest suspicion they should be followed up. I am 15 years old and it took doctors 13 years to find out.

- Rare disease patient, Spain

We need a lot of research through clinics, doctoral theses, studies ‐ also internationally please! Recognition of the work in the self‐help associations and groups and the increased involvement of these in the supply processes.

- Rare disease patient representative, Germany

Most rare disease patients still take several years to be diagnosed. In this time of uncertainty, rare congenital metabolic diseases develop irreversibly. I therefore call for comprehensive newborn screening and the possibility of a comprehensive genetic analysis for an early diagnosis.

- Leona, Germany

We need European measures to treat rare diseases, because everyone has the right to live their lives as well as possible. Early diagnosis and possibly, even treatment, if any, will help people with rare diseases and their families live better lives.

- Hana, Czech Republic

Screen4Care’s Dual Approach to Accelerate Rare Disease Diagnosis

Screen4Care proposes an innovative dual approach to shorten time to proper diagnosis for people living with rare diseases.

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 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.

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.

Explore Screen4Care's dual approach in detail by clicking on the chart below

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