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Report

Teaser, summary, work performed and final results

Periodic Reporting for period 1 - INFRAFRONTIER2020 (Towards enduring mouse resources and services advancing research into human health and disease)

Teaser

Summary

INFRAFRONTIER is the European Research Infrastructure for the generation, phenotyping, archiving and distribution of model mammalian genomes. The INFRAFRONTIER Research Infrastructure provides access to first-class tools and data for biomedical research, and thereby contributes to improving the understanding of gene function in human health and disease using the mouse model. The overall objective of the INFRAFRONTIER2020 project is to evolve INFRAFRONTIER towards a sustained and excellent operation. Further objectives are improving data management and fostering innovation potential. All project coordination, outreach, operations, data management, and service objectives are aligned with the EC Research Infrastructures Work Program, its call objectives, and expected impacts.

Work performed

The INFRAFRONTIER2020 project was implemented by hiring experts supporting the professionalization of communication activities, the implementation of a quality management system, and the reengineering of the INFRAFRONTIER database. Overall, excellent progress was made, key milestones were achieved, and a data management plan was submitted as first deliverable. Project implementation was further supported by 12 networking meetings held in the first period, facilitating project specific and wider INFRAFRONTIER strategic discussions.

A major outreach activity was the inaugural INFRAFRONTIER Stakeholder Meeting held in Athens on November 14-16 2017, with a thematic focus on â€˜Advancing Personalised Medicine with Animal Modelsâ€™. The meeting targeted a wide range of INFRAFRONTIER stakeholders including Personalised Medicine initiatives, Rare Disease networks, funders, regulators and the INFRAFRONTIER user community, to discuss advances in CRISPR/Cas9 technology to model human conditions. The first INFRAFRONTIER Stakeholder Meeting was very successful and attracted 194 participants, 22 countries and 5 continents.

New INFRAFRONTIER activities to advance microbiome and ageing research with animal models were also supported with major outreach events. A satellite meeting to the Core Technologies in Life Sciences conference, held in Ghent on July 1st 2018 was organized entitled â€˜Modelling the Mammalian Microbiota Host Superorganism - Current Tools and Challengesâ€™. A conference with the same title was planned in the first reporting period and will be held at the Institute Pasteur, Paris, on October 15th-16th 2018. Conference details can be accessed at http://www.mam-2018.org/. INFRAFRONTIER engaged in the joint MouseAge Annual Meeting and the IUBMB focused meeting on â€˜Molecular aspects of aging and longevityâ€™, which was held in Athens on October 19th and 20th 2017, providing an excellent outreach opportunity to present INFRAFRONTIER resources and services to a large audience of ageing researchers. INFRAFRONTIER2020 partners contributed to the writing of a review on frailty biomarkers which will be published in Ageing Research Reviews.

The 2nd PHENOMIN Advanced Training School in mouse phenogenomics attracted 31 participants from France, Germany, UK, Switzerland, Czech Republic and Hungary.

To improve the overall operational performance and to provide a basis for sustainable development initiatives, INFRAFRONTIER2020 aims to adopt a quality management (QM) system for the INFRAFRONTIER legal entity. The utility and applicability of different quality management approaches were evaluated. It was decided to implement an ISO 9001:2015 compliant Quality Management System (QMS), and as a first step a thorough context analysis was carried out and a detailed process map of the INFRAFRONTIER legal entity was developed.

A robust IT infrastructure is the single most critical element to integrate operational activities in INFRAFRONTIER, and further supports the interfacing with the user community and thus the sustainability of the INFRAFRONTIER infrastructure. Since the EMMA database has been continuously developed since 2002, there is an urgent need for a new development cycle in order to increase performance and reliability. The INFRAFRONTIER database reengineering was initiated with a workshop in March 2017, where detailed requirements from experienced users of the INFRAFRONTIER network were compiled providing a solid foundation for the development of a new schema for the central INFRAFRONTIER database. The manual annotation and validation of INFRAFRONTIER-EMMA disease model resources is instrumental in increasing their robustness, global recognition and visibility and in promoting their global dissemination and use, thus effectively contributing to the overall sustainability of INFRAFRONTIER. During the first reporting period 633 strains distributed by INFRAFRONTIER/EMMA were annotated to match specific disease models described

Final results

The INFRAFRONTIER2020 project will significantly enhance the sustainable operation of the INFRAFRONTIER RI and will continue to structure the ERA with an enlarged network and new Business Units. INFRAFRONTIER2020 will foster innovation and address the major societal challenge human health by new and customised service pilots supporting research into major common and rare diseases for its global user community. A sustainable INFRAFRONTIER RI will ensure the quality of deposited mice and supports the effort that biological results are reproducible. Outreach efforts will raise awareness of resources and services and inform stakeholders about the validity of mammalian models, their benefits and limitations, and the use of animal models in biomedical research. INFRAFRONTIER2020 will further facilitate the sustainable engagement with global consortia and networks driving the functional annotation of mammalian genomes.