In the EU alone, according to the Orphanet DB (https://pubmed.ncbi.nlm.nih.gov/31527858/), 30 million persons, 3,5-6% of the general population, are affected by one of the 6,172 different rare diseases (RDs) of which 72% are genetic and 70% affect children. The path to diagnosis for people suffering from a RD is burdensome, often severely delayed by a diagnostic odyssey. Lack of timely diagnosis affects disease management, family planning, identification of potential beneficial treatments and / or clinical trials. This unacceptable situation does not meet the concept of equity for EU citizens, and requires rapid, structured, and cost-effective corrective actions. The Screen4Care (S4C) consortium will leverage the genomic and digital advent to develop and pilot genetic NBS and AI-guided symptom recognition algorithms, while accounting for all relevant legal, regulatory and ethical considerations. S4C aims to harmonize the results of existing efforts in a horizon scan, by looking at the totality of the available data resources, diagnostic algorithms, and other initiatives with similar ultimate goals. The genetic NBS will interrogate 1) currently treatable RDs (TREAT-map gene panel), 2) actionable RDs (ACT-map gene panel) in 18.000 new-borns in 3 EU countries (D, It, and Cz). Further, S4C will offer whole genome sequencing (WGS) to early symptomatic babies, tested negatively during panel-based NBS to identify known NBS-escaped RDs and novel genes/phenotypes. S4C will also provide two digital diagnosis support systems for RD on the basis of features and symptom complexes: 1) federated ML- and literature-evidence-based algorithm for continuous and automated screening of EHR and 2) meta symptom checker with virtual clinics for patients and HCP offering the possibility of increased accuracy of diagnosis and ongoing supports. Our ambitious goal is to evaluate the validity of our multi-pronged approach to shorten the time to diagnosis for all patients affect by RDs, improve value-based healthcare resource utilization, and hopefully reduce the suffering of millions of European citizens.

The FUTURESILIENCE project aims to strengthen European economic and social resilience through an enhanced ability to quickly respond to future crises. This will be accomplished by facilitating the fast and effective use of policy relevant research and innovation (R&I) findings for actors at national, regional and local level. The project has four specific objectives: 1) Map existing policy relevant European R&I findings with high potential to inform policy making for economic and social resilience, and to help address societal challenges at local level 2) Define a set of methodologies for testing in how far the identified R&I findings can inform policies addressing national, regional and local needs 3) Implement the testing methodologies through multi-stakeholder experiments across Europe in co-creation with stakeholders from research, policy, economy, civil society organisations as well as citizens 4) Develop a Knowledge Base of the successfully tested research findings with high capacity to inform policy actors and a Toolbox of methods for testing policy relevant research findings FUTURESILIENCE will set up 'Future Resilience Labs' to test policy relevant R&I findings through 10 pilot exercises: three pre-identified working on climate change, migration and the financial crisis and urban planning; and seven selected through an open call. During the experimentation, multiple stakeholders will discuss and test evidence-based strategies tailored to their specific context and matching their local needs, aiming at reducing vulnerabilities and increasing capacities to be prepared for multiple types of possible crisis. The project will be implemented by a robust consortium with know-how in the fields of resilience, R&I policy and crisis management as well as experience with various co-creation and participative methodologies and specifically hands-on experience with foresight, scenario planning, virtual simulation and agent-based modelling.