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.

Rare diseases are defined as diseases that affect not more than 1 person per 2000 in the European population. While individual rare diseases affect only a small percentage of the population, they collectively affect up to 30 million people in the EU. To facilitate access to high quality cross-border healthcare and promote and foster cooperation on rare disease healthcare between member states, 24 European Reference Networks (ERN) are currently active. The aim of the ERICA consortium, in which all 24 ERNs take part, is to build on the strength of the individual ERNs and create a platform that integrates all ERN’s research and innovation capacity. Through knowledge sharing, engagement with stakeholders in the rare disease domain and assembly of transdisciplinary research groups working across the global health spectrum ERICA strives to reach the following goals: • new intra- and inter-ERN rare disease competitive networks; • effective data collection strategies; • better patient involvement; • enhanced quality and impact of clinical trials; • increased awareness of ERN’s innovation potential; Through integration of ERN research activities, outreach to European research infrastructures to synergistically increase impact and innovation ERICA will strengthen the research and innovation capacity of the ERNs. This will result in safe, accessible and efficient access of therapies for the benefit of patients suffering from rare diseases and conditions.

Systemic autoinflammatory diseases (SAID) encompass several rare disorders characterised by extensive clinical and biological inflammation. SAID are caused by the dysregulation of the innate immune system. Due to numerous and unspecific symptoms, tentative diagnosis often leads to failure/delay and inadequate treatments. ImmunAID will deliver a method for rapid and accurate diagnosis across all the spectrum of SAID, in order to improve clinical management of SAID patients. Thanks to parallel analyses run on samples from more than 600 patients with monogenic or undiagnosed SAID collected throughout Europe, Immunaid will generate a unique and comprehensive set of data, based on unbiased multiomics approaches (gene, transcript, protein, microbiome), and hypothesis-driven assays exploring inflammasome, inflammation resolution and immune networks. A centralised data management strategy will enable to conduct integrated analyses for diagnostic biomarker identification. In a discovery phase, semi-supervised clustering of omics data will be combined to supervised analysis of pathway-related data to provide robust classification and strong link to clinical features/impact. The related biomarkers will further be validated externally on independent samples and cohorts. Overall, ImmunAID will disentangle the spectrum of SAID, and propose a new omics- and pathogenesis-based SAID classification associated to a clinical decision making algorithm implementable in daily practice. An efficient dissemination plan will target e.g. guideline-forming bodies, the medical community and patients with the help of the ERN RITA and with the objective of turning our results into clinical practice. To further support this, proactive innovation management will be implemented. To reach its ambitious goals, ImmunAID interdisciplinary consortium gathers high-level partners, including the founder of SAID concept, experts in omics science, immunology, bioinformatics, and involves clinicians and patient advocacy groups.