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Consolidating the capacities of EATRIS-ERIC for Personalised Medicine

Periodic Reporting for period 1 - EATRIS-Plus (Consolidating the capacities of EATRIS-ERIC for Personalised Medicine)

Reporting period: 2020-01-01 to 2021-06-30

The overarching aim of EATRIS-Plus is to support the long-term sustainability (LTS) of EATRIS by delivering innovative scientific tools to the research community, strengthening the infrastructure’s financial model and reinforcing EATRIS leadership in the European Research Area (ERA), particularly in the field of Personalised Medicine (PM) research and development.
PM research seeks to identify interventions that can be targeted to individual patients based on their predicted response. This has substantial value for patients, as it can reduce trial-and-error treatments, enable better choices for determining which medications would be most effective, which in turn can help to manage rising healthcare costs.
The role of multi-omic technologies in the advancement of PM cannot be more vital. Efficient advancement of PM depends on the availability of validated patient-targeted biomarkers. However, as our capacity to identify genetic variants associated with complex diseases increases, these do not fully recapitulate the resulting disease phenotypes, and a more precise understanding of the molecular profiles are needed. Hence the consortium’s ambition is to deliver a multi-omic toolbox to support cross-omic analysis and data integration in clinical samples.
The multi-omic toolbox will include Standard Operating Procedures (SOPs), guidelines for best practices, reference materials, quality parameters, analysis tools, criteria for establishing reference values, and will provide access to a repository of multi-omic data and will be made available to the research community. The omic tools will be developed and tested with a real-world setting healthy demonstrator cohort in Czechia, upon whom genomic sequencing has been already performed. The human biological samples from this cohort will be analysed by laboratories across Europe and transcriptomic, proteomic and metabolomic data will be produced.
To that end EATRIS-Plus will work towards improving the understanding, data-sharing, and clinical needs of how gene, protein, mRNA and metabolite analysis will directly impact PM solutions.
EATRIS-Plus helps pooling and exploiting the translational academic capacities of the infrastructure in omic technologies to enable researchers to better address the scientific and societal challenge of PM. Additionally, the EATRIS hub and 14 existing national nodes of the infrastructure participate in implementing joint outreach, training, industry engagement and international collaboration activities to further build national capacity, increase users’ trust and strengthen EATRIS and the ERA’s global scientific leadership.
EATRIS-Plus project is implemented in nine Work Packages (WP). WPs 1-3 are dedicated to the scientific output – the Multiomic toolbox, and other work packages support the long-term sustainability, outreach and engagement with industry and patient organisations, developing new collaborations with similar European and global initiatives and organisations, training, and management. WP1 saw the mapping of EATRIS institutes’ omic capacities, and the human biological samples from the Czech cohort were sent to four analysis locations for the respective multiomic analyses to be performed (proteomic, transcriptomic, metabolomic and genomic). In WP2, recommendations for multi-omics data standardization and FAIRification have been formulated. In WP3 the collaboration has resulted in the compilation of SOPs from EATRIS-Plus sites for omics technologies, the finalization of the criteria of the EATRIS Quality Certificate..
WP4 already launched an ambitious capacity-building programme for all 14 national nodes represented in the consortium, as a first step towards further planning the infrastructure’s LTS. A new observer, Croatia, represented by University of Zagreb School of Medicine, was welcomed early 2021. WP5 has supported communication and dissemination efforts of consortium members to raise awareness about the project and the infrastructure at large. This WP also drove the rapid development of a recent alliance, the European Alliance of Medical Research Infrastructures (EU-AMRI) Through a close collaboration the European Patients’ Forum the Patient Advisory Committee has been formed.
In WP6 preliminary discussions were held with industry leads for potential future Innovation Hubs, and science forums were held on PM topics to raise awareness of EATRIS among bioclusters and SMEs. In WP7 the Community Training Needs Survey was carried out. Keeping in highlight the results of the survey, a Summer School in Personalised Medicine was held in mid-June 2021. In WP8 the publication of the new Translation Together (TT) website and video, and the accession of a new member to the TT initiative (Oswaldo Cruz foundation, Brazil) WP9 activities mostly focussed on setting up necessary management and operational workflows for a successful running of the project during the 4 years. The Data Management Plan and the KPI Framework were delivered.
EATRIS-Plus will use cutting-edge academic expertise and technology services to help de-risk and improve the flow of academic and industry developments downstream towards the patient, reducing barriers to public-private and public-public collaboration, facilitating the development of novel patient-targeted diagnostic and therapy interventions necessary for the adoption of PM. The project will also support the development of analytical tools and operational models to reduce the cost and time associated with early medicines development, thereby enhancing biomedical innovation at European and global levels.
The main expected scientific impacts are enhanced access for academics and researchers to translational tools and expertise and more efficient use of Personalised Medicine solutions at the clinical level. In terms of economic impact we see faster development of patient-targeted diagnostic and therapy products, and higher return on investment in fundamental research. The most important societal impacts are patients’ improved access to individually-targeted innovative therapeutic products, and society’s meaningful participation in research and innovation through better understanding of the role of science in society. In term sof human capital impact we foresee better-trained clinicians in the use of translational medicine tools, and finally for policy impact the fficient implementation of action plans for Personalised Medicine and stronger global EU leadership and consolidation of the biomedical RI landscape.
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