Shortening the Path to Rare Disease Diagnosis: Project Screen4Care Featured in the 'Signalise' Podcast

The EU-funded research project Screen4Care aims at providing an innovative research approach to accelerate rare disease diagnosis, which is based on two central pillars: genetic newborn screening and digital technologies. Now in its second project year, Screen4Care was recently featured in an episode of Signalise: a Dazzle4Rare Podcast. EFPIA Lead Dr. Nicolas Garnier discussed the project’s scientific approach, goals and objectives with podcast host Kimberly Thomas-Tague, focusing on the importance of newborn screening programmes. In an informative and insightful format, the episode introduces the work of the Screen4Care consortium to layman audiences in an easily comprehensible manner. The primary goal of this Screen4Care initiative is to raise awareness of the project’s potential impact on the rare disease community and healthcare stakeholders.

The podcast episode is available here.

Launched in October 2021, the Screen4Care consortium brings together academic institutions, pharmaceutical companies, patient organisations and specialised SMEs with the overarching objective of improving the lives of people living with a rare disease. Next to the advancements in genetic newborn screening, the project also focuses on the development of AI-based tools, such as the 'meta-symptoms checker', that will support patients and healthcare professionals in the diagnosis process. During the first year, essential milestones were reached. The foundation for the scientific work has been implemented, internal standards were crystalised and regulatory procedures and protocols for future scientific work were established.

For more information, please visit the project website and follow Screen4Care on LinkedIn, Twitter and YouTube.