HealthScreen4Care
Accelerating Rare Disease Diagnosis with Newborn Genetic Screening and Smart Digital Tools
At a Glance
- Early detection of rare diseases through genetic newborn screening
- AI-driven tools to support faster and more accurate diagnoses
- Empowering patients and clinicians with digital health innovations
- Building a Europe-wide ecosystem for rare disease diagnosis
- Pioneering a new model for personalised, data-driven screening
A Race Against Time
For people living with a rare disease, every day without a diagnosis can mean missed opportunities for treatment, worsening symptoms, and ongoing emotional strain. Most rare conditions begin in early childhood, yet many families spend years searching for answers—navigating a maze of referrals, inconclusive tests, and uncertainty. This long journey takes a toll not only on individuals and their loved ones, but also on healthcare systems trying to provide timely and effective care. Screen4Care aims to change this reality. By enabling early detection through genetic newborn screening and supporting clinical decision-making with digital tools, the project helps reduce diagnostic delays, providing clarity, access to support, and a better quality of life from the outset.
Smart Tools, Early Answers
Screen4Care combines advances in genomics, artificial intelligence, and digital health to transform the detection and diagnosis of rare diseases across Europe. One of the project’s core pillars is large-scale genetic newborn screening, using next-generation sequencing to identify over 240 rare conditions early in life. Alongside this, Screen4Care is developing AI-based tools such as digital symptom checkers and algorithms embedded in electronic health records to support healthcare professionals in recognising signs of rare diseases at an earlier stage.
The voices of people living with rare diseases, their families, and caregivers are at the centre of this work. Their insights shape the design and development of every tool, ensuring that the solutions are inclusive, practical, and truly meet the needs of those affected. At the same time, Screen4Care is laying the foundation for a harmonised European framework for rare disease detection. By aligning approaches across countries, the project is helping to create a more consistent, equitable, and efficient diagnostic pathway for everyone, regardless of where they live.
