In the coming decade a significant number of the 500.000.000 European (EU/EEA) citizens will have their genome determined routinely. This will be complemented with much cheaper (currently ~20 Euro per measurement) acquisition of the metabolome of biofluids (e.g. urine, saliva, blood plasma) which will link the genotype with metabolome data that captures the highly dynamic phenome and exposome of patients. Having such low cost solutions will enable, for the first time, the development of a truly personalised and evidence-based medicine founded on hard scientific measurements. The exposome includes the metabolic information resulting from all the external influences on the human organism such as age, behavioural factors like exercise and nutrition or other environmental factors. Considering that the amount of data generated by molecular phenotyping exceeds the data volume of personal genomes by at least an order of magnitude, the collection of such information will pose dramatic demands on biomedical data management and compute capabilities in Europe. For example, a single typical National Phenome Centre, managing only around 100,000 human samples per year, can generate more than 2 Petabytes of data during this period alone. A scale-up to sizable portions of the European population over time will require data analysis services capable to work on exabyte-scale amounts of biomedical phenotyping data, for which no viable solution exists at the moment. The PhenoMeNal project will develop and deploy an integrated, secure, permanent, on-demand service-driven, privacy-compliant and sustainable e-infrastructure for the processing, analysis and information-mining of the massive amount of medical molecular phenotyping and genotyping data that will be generated by metabolomics applications now entering research and clinic.

The aim of this project is to exploit research capacities built in Central Europe with a support of the European Structural and Investment Funds and develop a cutting-edge research platform capable of addressing major scientific and societal challenges of the contemporary Europe in the area of Environment and Health. It will enhance a scientific value of existing regional population studies and turn them into the accessible source of valuable information by developing sustainable biobanking platform and harmonizing their protocols, questionnaires, and standard operation procedures to allow for their joint assessment and interpretation of results. Existing research programmes will be expanded to address questions related to a wider range of factors (generically called exposome) impacting human health and wellbeing. To identify new biomarkers of exposures, effects, and susceptibility to pathologies, innovative approaches to the assessment of multiple exposures have to be developed including omics technologies, novel methods for integrative analysis, software tools and computational models, chemical sensors and triggers allowing for tracing such processes in biological systems. This innovative research is well aligned with the European and national strategic priorities and documents (including the National Innovation Strategy), and will generate substantial new knowledge needed for prioritisation of future research and policy actions in the area of chemical management as well as practical tools applicable in health protection, prevention, diagnostics, and intervention with the aim of minimizing the burden of disease, improve the health and well-being of citizens and lower health costs.

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 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.

BIGPICTURE, a pathology-led consortium, has the vision to become the catalyst in digital transformation in Pathology. Our mission is to create the first European GDPR compliant platform, in which both quality-controlled Whole Slide Imaging (WSI) data and advanced Artificial intelligence (AI) algorithms will exist. The BIGPICTURE platform will be built on existing assets of ELIXIR EU data infrastructure, including the federated European Genome-phenome Archive (EGA) technology for managing the exchange of confidential information between contributors and users. The consortium will use Cytomine, an established open-source, cross-platform framework to develop unique tools for access to WSI, including annotations and visualisation of algorithm results, while we will develop new and generic models to facilitate AI development and mining of WSI data. By engaging and building consensus with all the relevant stakeholders, we will contribute to the development of a regulatory framework for digital slides and AI-based methods. Finally, BIGPICTURE envisions sustainability of its platform through a community- based model which relies on reciprocity, value creation and inclusiveness. To achieve our vision, we have brought together Europe’s leaders in the field of computational pathology who have access to national and European high-performance computing infrastructures as well as Europe’s fully digitalised pathology departments. Additionally, the consortium has currently access to approximately 4.5 million clinical WSI covering a wider range of indications through 17 partners and 23 third parties from the largest European and international pathology and trial groups. Our consortium is further strengthened by the presence of the European Society of Pathology, Digital Pathology Association, FDA and 9 SMEs as partners, while we are further supported by professional societies, and patient advocates.