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.

X-eHealth’s project stands herein for a project of strategic relevance for tomorrow’s European eHealth Union. Assembling at the time of this proposal submission a shared commitment of 47 health actors, the underlying idea of this project is to develop the basis for a workable, interoperable, secure and cross border Electronic Health Record exchange Format in order to lay the foundation for the advance of eHealth sector while using the 3 pillars put forward by the EC as reference. Aimed at promoting a faster and sustainable EU digital transformation, this Cooperative and Support Action is made up of 8 Work Package in which 4 exclusively focus on technical-functional activities (WP4 to WP7). From Generic Aspects to System Architecture and Integration, passing by Functional and Technical Specifications, X-eHealth objective is to move towards a uniform interoperable data-sharing format framework. In addition, to enhance EU’s public health state of play, WP1 and WP8 are responsible for implementation studies, practicality and continuity of eHealth interoperability development. On this basis and building upon the already in place Patient Summary, X-eHealth purpose is to develop the foundations for a common framework for medical imaging, discharge letters, laboratory results and rare diseases to flow both alongside citizens care pathway and across health entities between EU Member States and Neighbour Countries. Focus on cross-border services, this consortium aims to advance an interoperable Common European Health Data Space for citizens and health providers engagement in accordance with privacy and cybersecurity regulations. To achieve this end, X-eHealth gathers 36 consortium partners plus 5 collaborative partners and 6 eHealth skilled experts, eager to develop the abovementioned 4 domains, and distinguished by policy and political actors mixed with national competent authorities to indeed concretely plan, implement and maintain national eHealth infrastructures.

ERA PerMed will serve as a funding vehicle of topics identified in the Strategic Research and Innovation Agenda (SRIA) in Personalised Medicine and the Action Plan of ICPerMed. ERA PerMed will coordinate R&I efforts of the participating partners (funding agencies from EU, associate countries to H2020 and third countries). The main objective is planning, implementing, monitoring and disseminate up to four joint transnational calls (JTCs) tackling the value change in full to fund multidisciplinary transnational research projects covering each at least three slots of the value chain regarding Personalised Medicine. The ERA PerMed consortium is open to enlargement for the planned JTCs. According to funding scheme’s rules, ERA PerMed partners commit themselves to implement one call with top-up co-funding from the EC, and include funded project monitoring. Additionally, up to three non-cofunded calls will be carried, in order to broaden the scope of action of the efforts made by the EC and funding organizatio

EP PerMed is a new European Partnership dedicated to Personalised Medicine (PM). It supports PM-related R&I, but also facilitates and accelerates all steps so that PM achievements successfully pass through the full value continuum to be implemented in sustainable health systems for the benefit of people and societies. The partnership will foster demonstration projects and promote successes and lessons learned to demonstrate evidence of PM implementation. EP PerMed activities cover overarching aspects, like patient involvement, exchange with medical societies, infrastructures and international and regional collaboration. The project portfolios of EP PerMed and ERA PerMed (ERA-Net co-fund on PM) and others are supported to become successful innovations in healthcare practice. EP PerMed will be the global PM-platform for scientific and strategic dialogue and alignment, resulting in public documents and publications. Accordingly, it will inform the public, patients, healthcare providers or payers about the latest PM options and engage them. The Strategic Research and Innovation Agenda for Personalised Medicine (SRIA for PM, 2023), developed by EP PerMed partners, is the basis for the partnership's structure and a wide range of its activities. All steps of the SRIA development were strongly support by numerous PM-experts, stakeholders and the European Commission (EC). Thus, the EP PerMed annual Joint Transnational Calls (JTCs) and other funding and activities, events and tools will be in line with the SRIA and outputs will feed into a SRIA update in the coming years. The partnership builds on several developments, initiatives and projects such as ERA PerMed, ICPerMed and its supporting projects (“ICPerMed Family”) funded by the EC. In parallel, it reaches out to the 1+Million Genomes Initiative, other European Partnerships in the Health Cluster and infrastructures like the European Strategy Forum on Research Infrastructures (ESFRI).

As recognized by the Council Recommendation 2009/C 151/02, rare diseases (RD) are a prime example of a research area that can strongly profit from coordination on a European and international scale. RD research should be improved to overcome fragmentation, leading to efficacious use of data and resources, faster scientific progress and competitiveness, and most importantly to decrease unnecessary hardship and prolonged suffering of RD patients. In the specific context of the massive generation, need for reuse and efficient interpretation of data, introduction of omics into care practice and the structuration of RD care centers in European Reference Networks, it appears crucial and timely to maximize the potential of already funded tools and programmes by supporting them further, scaling up, linking, and most importantly, adapting them to the needs of end-users through implementation tests in real settings. Such a concerted effort is necessary to develop a sustainable ecosystem allowing a virtuous circle between RD care, research and medical innovation. To achieve this goal, the European Joint Programme on RD (EJP RD) has two major objectives: (i) To improve the integration, the efficacy, the production and the social impact of research on RD through the development, demonstration and promotion of Europe/world-wide sharing of research and clinical data, materials, processes, knowledge and know-how; (ii) To implement and further develop an efficient model of financial support for all types of research on RD (fundamental, clinical, epidemiological, social, economic, health service) coupled with accelerated exploitation of research results for benefit of patients. To this end, the EJP RD actions will be organized within four major Pillars assisted by the central coordination: (P1): Funding of research; (P2): Coordinated access to data and services; (P3) Capacity building; (P4): Accelerated translation of research projects and improvement outcomes of clinical studies.