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  • Periodic Reporting for period 1 - IPAD-MD (Research Infrastructures for Phenotyping, Archiving and Distribution of Mouse Disease Models - Promoting International Cooperation and User Engagement to Enhance Biomedical Innovation)
H2020

IPAD-MD Report Summary

Project ID: 653961
Funded under: H2020-EU.1.4.3.2.

Periodic Reporting for period 1 - IPAD-MD (Research Infrastructures for Phenotyping, Archiving and Distribution of Mouse Disease Models - Promoting International Cooperation and User Engagement to Enhance Biomedical Innovation)

Reporting period: 2015-06-01 to 2016-11-30

Summary of the context and overall objectives of the project

Mouse disease models have proven to be a key resource for biomedical research to tackle the global health challenges. Europe has a leading position in developing concepts and interoperable standards for mouse disease model resources and data that have been adopted globally. INFRAFRONTIER is the pan-European research infrastructure for the systemic phenotyping, archiving and distribution of mammalian models, serving a global user community. The International Mouse Phenotyping Consortium (IMPC) is a global initiative to support biomedical research and provide the basis for the development of novel disease treatments by building a comprehensive functional catalogue of the mammalian genome by generating and systemically phenotyping knockout mouse strains for the approx. 20.000 protein-coding genes, and INFRAFRONTIER is a major contributor to this initiative.
The IPAD-MD project addresses global cooperation and coordination between the pan- European INFRAFRONTIER Research Infrastructure and complementary research infrastructures in America, Asia and Australia, contributing to the global effort of the IMPC, and with complementary research infrastructures and users in Africa.

The main activity of IPAD-MD is the organisation of international thematic workshops, bringing together key stakeholders from INFRAFRONTIER, the IMPC, the biomedical research community, industry, funders and policy and patient organisations to achieve three major objectives:
1. Strengthen the coordination between the global research infrastructures to facilitate global global interoperability of large-scale resources and services for mammalian disease models;
2. Engage key international stakeholders to ensure their input on the global large-scale resources for the use of mammalian models in biomedical research;
3. Develop a global approach to the innovation of these resources and services.

Work performed from the beginning of the project to the end of the period covered by the report and main results achieved so far

During the first reporting period IPAD-MD WP2 has organised the Kick-Off Meeting in Munich in July 2015, a first major stakeholder event, the INFRAFRONTIER Industry and Innovation Workshop which took place in Munich in June 2016, and five IPAD-MD expert group meetings.

The IPAD-MD Kick-Off Meeting was attended by 52 participants from the IPAD-MD partners and the IMPC, and other European and international initiatives such as the International Human Epigenetics Consortium (IHEC), or the IMI NEWMEDS programme. A representative from the University of Cape Town was invited to provide insights on the African research communities.The INFRAFRONTIER Industry & Innovation Workshop was attended by 88 participants, from Europe, North America, Asia and Australia, representing both academia and biopharma institutions. Key topics addressed were the need to tackle the reproducibility and robustness of research results; the role of repositories in the genome editing technologies era; the predictability and validity of mouse models and how to close the translation gap between pre-clinical and clinical research.

IPAD-MD WP6 implements the Standards and Technology (S&T) Expert Group.The first S&T Expert Group Meeting (focused on phenotyping) was organised in conjunction with the INFRAFRONTIER IMPC Korea Meeting which took place in Seoul in September 2015. At two IPAD-MD Workshops, the first on Metabolic Phenotyping and Metabolomics, the second on Behavioural Phenotyping, IPAD-MD S&T Expert Group members discussed how state of the art phenotyping methodology in these areas can be implemented within INFRAFRONTIER and the IMPC. The second S&T Expert Group Meeting with focus on cryopreservation and distribution of mouse lines took place in Monterotondo, Italy, in November 2015. The experts discussed novel developments in oocyte and embryo vitrification, oocyte freezing, non-surgical embryo transfer and super ovulation. The thematic input to the INFRAFRONTIER Industry & Innovation Workshop and the cross-cutting themes ‚Animal Welfare‘ and ‚Outreach to Africa‘ were also discussed at the workshop. In April 2016 the IPAD-MD S&T Expert Group Meeting was organised in conjunction with the IMPC-INFRAFRONTIER Strasbourg Meeting. WP6 organised two dedicated workshops, one on Genome Editing, the second on Phenotyping. In the first event, minimum requirements for the use of CRISPR/Cas9 technologies in the high-throughput setting of the INFRAFRONTIER mouse clinics and the IMPC were discussed as well as minimum information sets required to archive those lines in mouse repositories. In the phenotypic event the progress since the last meeting in South Korea was discussed.

IPAD-MD WP7 implements the Data and Resources (D&R) Expert Group. The first D&R Expert Group Meeting was held in Hinxton, United Kingdom, in October 2015, focusing on obtaining user feedback and expert input on the User Experience of the INFRAFRONTIER and IMPC web portals giving access to large-scale mouse resources. The second D&R Workshop took place in Freising, Germany in December 2016, focusing on ‚Improving curation and annotation tooling for mouse models of rare disease‘.

IPAD-MD WP3 carried out a survey of strategic research agendas at the European and global level. In a first step the current and emerging research priorities were queried from the INFRAFRONTIER and IMPC partners. The research priorities identified were then used for an analysis of the existent strategic research agendas of ERA-Nets, Joint-Programming Initiaties, Public-Private Partnerships such as the Innovative Medicines Initiative (IMI) and other research programmes involving ministries and funding agencies in their strategic planning. WP4 has carried out a survey of user requirements and application scenarios. The study entailed an analysis of the INFRAFRONTIER database to characterise the academic and non-academic user community of INFRAFRONTIER, as well as the analysis of user feedback survey that was sent out to users of INFRAFRONTIER and the IMPC. In line with the IPAD-MD 'cross-cutting theme - Outreach to Africa', WP4 entered into discussions with African partners on a more formal collaboration with INFRAFRONTIER. WP5 has started a mapping exercise of existing interactions of INFRAFRONTIER partners with patient organisations to identify potential links and gaps to be addressed in the future. A systematic review of their research activities, strategic research agendas (if available) and their relationship to basic research and research involving animals models is ongoing. WP8 participated in the IPAD-MD meetings to ensure that the cross-cutting topic of 'Animal Welfare' was part of the agenda and the discussions.

Progress beyond the state of the art and expected potential impact (including the socio-economic impact and the wider societal implications of the project so far)

During its first reporting period the IPAD-MD project already addressed many of the objectives described for the project: contributing to address societal challenges with a global dimension, developing cooperation with key international partners for research infrastructures, supporting progress towards the development of global research infrastructures, contributing to the development of a competitive high performance ERA in the global research environment and contributing to capacity building and research infrastructures human capital development in targeted/relevant regions (Africa).

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