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People living with rare diseases often suffer through a ‘diagnostic odyssey’, which involves long and frequent visits to health-care providers, including many rounds of unproductive testing and interventions.  This odyssey often provokes anxiety and living without the correct diagnosis brings additional barriers to access social support and leaves families unable to make life decisions based on their condition. Screen4care offers a novel approach based on the following two central pillars: genetic newborn screening and digital technologies. The tools developed by Screen4Care aim to stimulate digital transformation within the healthcare system and improve diagnostics for rare diseases. Screen4Care strives to empower and inform patients and their families, connect the rare disease communities across Europe and involve all stakeholders in the decision-making processes towards an accelerated proper diagnosis.

Project duration:

October 2021 – September 2026

The consortium

See full list here.

Funding body



EURORDIS’ role in the project

As a key partner, EURORDIS is located at the heart of Screen4Care and involved in all areas of focus. It is directing and advising all partners on the priorities, needs and perspectives of people living with rare diseases. In addition, EURORDIS will also ensure the engagement of critical stakeholders through its well-defined activities:


EURORDIS chairs the Patient Advisory Board which is comprised of 11 rare disease patient representatives who provide high level advice and strategic recommendations for the project.


Patient input will be ensured through several activities including through the definition of actionable diseases for genetic newborn screening with the help of the EURORDIS NBS Working Group and EURORDIS survey programme Rare Barometer.


EURORDIS will create and lead a multi-stakeholder Screen4Care Forum on Newborn Screening to consider, discuss and promote the project’s activities in the sphere of newborn screening.


EURORDIS provided the mapping of Rare Disease initiatives in Europe, to serve as a basis for exchange and communication with the Rare Disease community of stakeholders.


The co-design of the Screen4Care platform and symptom checker will be facilitated through focus groups‘ activities with patient representatives from different disease areas and from the EURORDIS Data and Digital Advisory Group (DAG).


The participation of EURORDIS will also optimise communication and dissemination activities and maximise involvement of key stakeholders in Screen4Care.

Patient engagement

Members of the EURORDIS DAG is participating in focus group’s activities from different disease areas to co-design the Screen4Care platform and symptom checker. The DAG has also consulted on the ethical framework of the project.

The EURORDIS NBS Working Group will provide input on the definition of actionable diseases for genetic newborn screening.

Through the EURORDIS Rare Barometer survey programme, people living with a rare disease will help define actionable diseases. EURORDIS will develop the questionnaire together with its Newborn Screening Working Group (NBS-WG) comprised of experts from patient organisations, international screening societies and international and national federations with a focus on NBS.

Screen4Care follows an integrated approach of strong patient involvement in the project’s overall structure

Edith Sky Gross, Health and Social Science Senior Project Manager

EURORDIS priorities on Diagnosis

A diagnosis can serve as the key to unlocking access to appropriate medical and social care. Getting an accurate diagnosis even when there is no treatment provides the opportunity for people living with a rare disease and their families to plan their care and future.

Contact person

Gulcin Gumus,
Research and Policy Project Senior Manager

Gulcin Gumus