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Towards enduring mouse resources and services advancing research into human health and disease

Periodic Reporting for period 2 - INFRAFRONTIER2020 (Towards enduring mouse resources and services advancing research into human health and disease)

Reporting period: 2018-07-01 to 2019-12-31

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.
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 and 7 in the second, facilitating project specific and wider INFRAFRONTIER strategic discussions.

Several major outreach activities in the form of annual Stakeholder Conferences were organised in Athens (2017), Munich (2018) and Helsinki (2019). Each of these conferences was attended by nearly 200 participants each and covered topics of personalised medicine, rare diseases, gene therapy, ageing, genetic variation and ageing. These conferences involved a wide range of stakeholders and engaged the wider INFRAFRONTIER user community.

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 ‘Modelling the Mammalian Microbiota Host Superorganism - Current Tools and Challenges’. A conference with the same title was organised in the second reporting period at the Institute Pasteur, Paris, on October 15th-16th 2018. INFRAFRONTIER engaged in the joint MouseAge Annual Meeting and the IUBMB focused meeting on ‘Molecular aspects of aging and longevity’, 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. It also co-sponsored the 3rd Molecular Biology of Ageing Meeting on October 10-12, 2019, in Groningen. This meeting brought together world-leading scientists to discuss the diverse research areas that are relevant for understanding the biology of ageing.

A total of three PHENOMIN Advanced Training Schools in mouse phenogenomics attracted more than 70 participants in total from France, Germany, Italy, UK, Switzerland, Czech Republic and Hungary during the first two periods. These schools provide structured and comprehensive information on good practices in the use of mouse model (experimental design, ethics, regulations, analysis, data and resources) to support attendees in their research. The program consists of invited speakers' talks, and on work sessions on selected scientific and/or methods issues.

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 implementation of an ISO 9001:2015 compliant Quality Management System (QMS) proceeded with the definition of process flows and interactions and the compilation of the INFRAFRONTIER Operations Handbook

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. The new and improved EMMA Mutant Submission Form released during the second reporting period has simplified strain submission and increased customer satisfaction. In addition, the schema (Entity Relationship Diagram) for the new central database was streamlined along with the development of prototype views for a new internal database interface for archive managers, curators and contact/meeting managers. A new search engine and indexing technologies on the main EMMA strain search page and the INFRAFRONTIER bibliography page were also deployed. 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.

The INFRAFRONTIER2020 project offers four new pilot services implemented as Transnational Access (TA) activities (WP5-WP8). The pilots provide access to new service offers at small scale to promote and support new activities and future directions of INFRAFRONTIER. Pilots of new services involve state-of-the-art gene editing technologies for mouse and rat model development (WP5), systemic phenotyping of aged mice (WP8) and secondary phenotyping platforms (WP6) to support disease model development and characterisation for both academic and industry users. The axenic / gnotobiology platform offers the derivation of germ-free mice as a service in support of the rapidly developing field of microbiome research and research into host - microbiota interactions (WP7). Continuing the implementation of an efficient, straightforward and transparent process for promoting and evaluating TA services in INFRAFRONTIER2020, 12 TA calls were conducted resulting in 115 submitted project proposals. Following a thorough assessment by a mixed Evaluation Committee, a total of 56 joint projects across the various TA pilots were initiated.The focus of all projects is a contribution to modelling human diseases in major research areas ranging including cancer, diabetes and neurodegenerative diseases.
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.