The European Rare Diseases Research Alliance (ERDERA) aims to improve the health and well-being of the 30 million people living with a rare disease in Europe, by making Europe a world leader in Rare Disease (RD) research and innovation, to support concrete health benefits to rare disease patients, through better prevention, diagnosis and treatment. This Partnership will deliver a RD ecosystem that builds on the successes of previous programmes by supporting robust patient need-led research, developing new diagnostic methods and pathways, spearheading the digital transformational change connecting the dots between care, patient data and research, while ensuring strong alignment of strategies in RD research across countries and regions. Structuring goal-oriented public-private collaborations targeted at interventions all along the R&D value chain will ensure that the journey from knowledge to patient impact is expedited, thereby optimising EU innovation potential in RD. To support its ambition and missions ERDERA has been designed as a comprehensive and integrated ecosystem of which structure can be compared to an institute encompassing three main parts: (i) funding, (ii) internal (in house) Clinical Research Network that implements research activities targeting clinical trial readiness of RDs and accelerating diagnosis and translation of research discovery into improved patient care, and (iii) related supporting services (Data, Expertise, Education and Training) as well as an acceleration hub that serve external and internal RD community, all supported by all-embracing coordination and strategy and foundational (inter)national alignment.

1 child out of 33 is born with a congenital malformation in developed countries, leading to mortality & disability which impact the children, the families & healthcare system. Fetal ultrasound is the standard non invasive examination to screen for malformations, but 50% of malformations are not detected at routine exams as fetal ultrasound is very complex, time-consuming & highly operator-dependent. One needs to acquire the right images, interpret them & combine them with blood or/and genetic tests to get the right diagnosis. We created Sonio, an AI one-stop modular software platform to guide OBGYNS & sonographers during fetal ultrasound. The core is the Clinical Brain, a unique mix between fetal medicine & AI, aware of 1.6k anomalies & 450 syndromes. It can prioritize anomalies to identify the most probable diagnoses based on medical history & observed phenotype. With EIC support, we will fully build image recognition & genomics into our platform to revolutionize prenatal diagnosis.