The clinical and genetic investigations of diseases of the Cypriot population as well as eHealth are a priority of the Smart Specialization Strategy of the Cyprus government. This strategy can best be served by creating a Centre of Excellence (CoE) with two main spear heads: A contemporary Biobank and a research facility for developing the Cyprus Human Genome Project. Biobanks are organized collections of medical records and biological material of all types, aimed to support biomedical research, serving as repositories and distribution centers. Cyprus, as a Low Performing Member State, was the last country that started a Biobank, when 4 years ago we were competitively funded by the European Regional Development Fund & the Republic of Cyprus through the Cyprus Research Promotion Foundation. That project provided €2m, 0.4m of which was for creating a seed infrastructure for Biobanking. The rest was used for research in inherited kidney diseases. The money for Biobanking was too little for supporting a contemporary operation of recruiting adequate numbers of patients with complete records and promoting translational research. Here, we propose to upgrade the existing small infrastructure and turning it into a CoE with the assistance of Advanced Partners who led a similar operation Europe-wide, Prof. K. Zatloukal, coordinator of the Biobanking & BioMolecular Resources Research Infrastructure that recently became an ERIC (European Research Infrastructure Consortium) directed by Jan-Eric Litton (BBMRI-ERIC) located in Graz, Austria. The previous activity allowed us to comprehend the problems associated with patient recruitment and record collection. This can now serve as a starting point for upgrading it into a larger scale operation of European standard, aimed at leading the Cyprus Human Genome Project, part of which will be the sequencing of 1000 Cypriot genomes. This CoE will provide the prospects for innovative research and lead Cyprus into the European Research Area.

BBMRI-ERIC: the Biobanking and BioMolecular resources Research Infrastructure - European Research Infrastructure Consortium, aims to establish, operate and develop a Pan-European distributed research infrastructure in order to facilitate the access to biological resources as well as facilities and to support high quality biomolecular and biomedical research. The ADOPT BBMRI-ERIC proposal aims at boosting and accelerating implementation of BBMRI-ERIC and its services. Its main deliverables are designed to complete or launch the construction of key Common Services of the Research Infrastructure as required for ESFRI-projects "under implementation", reflecting the targets of the European Research Area (ERA). One of the challenges in the post-genomic era is the research on common complex diseases, such as cancer, diabetes and Alzheimer’s disease. Revealing these diseases will depend critically on the study of human biological samples and data from large numbers of patients and healthy individuals. The EU’s ageing population is will result in an increase in many of those diseases and consequently an increased healthcare expenditure for senior citizens. BBMRI-ERIC is a specific European asset having become a fundamental component in addressing the ongoing and future requirements particularly of Europe's health service frameworks, including competitiveness and innovativeness of health-related industries. Its implementation is essential for the understanding of the diversity of human diseases, biological samples and corresponding data, which are required for the development of any new drug or diagnostic assay and are, therefore, critical for the advancement in health research, ultimately leading to personalised medicine. BBMRI-ERIC will provide a gateway access to the collections of the European research community, expertise and services building on the outcome of ADOPT BBMRI-ERIC.

The social and economic challenges of ageing populations and chronic disease can only be met by translation of biomedical discoveries to new, innovative and cost effective treatments. The ESFRI Biological and Medical Research Infrastructures (BMS RI) underpin every step in this process; effectively joining scientific capabilities and shared services will transform the understanding of biological mechanisms and accelerate its translation into medical care. Biological and medical research that addresses the grand challenges of health and ageing span a broad range of scientific disciplines and user communities. The BMS RIs play a central, facilitating role in this groundbreaking research: inter-disciplinary biomedical and translational research requires resources from multiple research infrastructures such as biobank samples, and resources from multiple research infrastructures such as biobank samples, imaging facilities, molecular screening centres or animal models. Through a user-led approach CORBEL will develop the tools, services and data management required by cutting-edge European research projects: collectively the BMS RIs will establish a sustained foundation of collaborative scientific services for biomedical research in Europe and embed the combined infrastructure capabilities into the scientific workflow of advanced users. Furthermore CORBEL will enable the BMS RIs to support users throughout the execution of a scientific project: from planning and grant applications through to the long-term sustainable management and exploitation of research data. By harmonising user access, unifying data management, creating common ethical and legal services, and offering joint innovation support CORBEL will establish and support a new model for biological and medical research in Europe. The BMS RI joint platform will visibly reduce redundancy and simplify project management and transform the ability of users to deliver advanced, cross-disciplinary research.

The aim of INTERVENE is to develop and test next generation tools for disease prevention, diagnosis, and personalised treatment utilizing the first US-European pool of genomic and health data and integrating longitudinal and disease-relevant -omics data into genetic risk scores. Resulting in unprecedented potential for prediction, diagnosis, and personalised treatments for complex and rare diseases. Some of the largest biobanks in Europe and one in the USA will be securely linked and harmonized in a GDPR-compliant repository with data from more than 1.7 million genomes. INTERVENE will demonstrate the potential and benefits of powerful AI technologies on the next generation of integrative genetic scores (IGS). The clinical and economic benefits of IGS will be evaluated in key disease areas with major public health burden. Here, the newly developed IGS will be taken into clinical environment and their real-world benefits will be evaluated together with clinical experts, European patients advocate groups and medical societies and considering regulatory and ethical implications. Thus, a framework for legally and ethically responsible translation into wider clinical practice will be developed. Moreover, the partners will develop and test the role of IGS in several rare diseases as well as COVID-19 infection and severity. Importantly, to support the application of IGS via public-private partnerships including clinical practitioners, an AI-enabled federated data analysis platform, the ‘IGS4EU’ platform, will be developed for automated IGS generation and interpretation for end-users. Additionally, the IGS4EU platform will allow access of the INTERVENE data and the methodology know-how to the AI community through a competition-based benchmarking environment. In the long term, the IGS4EU platform aims to grow the disease coverage and enable a wide adoption of IGS as a gold standard in clinical research and practice.

Personalised Medicine (PM) approaches, thanks to the latest technological advances notably in the fields of biomedical and digital technologies, prove their potential to improve healthcare and underpin more efficient and sustainable health systems. PM is at the top of the European Commission research agenda, with funding devoted to projects along the entire value chain. In China, PM is attracting massive interest, with the government capitalising on its expertise in biotechnology, computing hardware and the ability to put in place the infrastructures for supporting large bioinformatics projects. Turning PM into an opportunity for all citizens and patients requires the engagement of all stakeholders, in order to define common research and development approaches, standards, and priorities, and to scale up the collaboration at the International level. In order to respond to these challenges, the EU supports actions developed within the International Consortium for Personalised Medicine (ICPerMed). IC2PerMed project will provide key solutions for enabling the convergence under ICPerMed consortium of European and Chinese stakeholders towards a common approach of PM research, innovation, development and implementation involving policy makers and healthcare beneficiaries, by: - mapping policies, programmes, standards and initiatives related to PM in Europe in China for identifying the opportunities for research collaborations; - structuring its developments upon an ecosystem of European and Chinese experts, collaborating in Working Groups centred on ICPerMed Action plan priorities; - setting bridges with key organisms involved in the definition and implementation of PM and healthcare systems in both economic areas, both on benefits for coordinated approaches for research and on concrete developments taking place within and along the project; - inserting its developments in international contexts, through ICPerMed and its involvement in relevant initiatives and networks.