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Reinforcing IPT capacities in Genomic Medicine, Non Communicable Diseases Investigation and international cooperation

Final Report Summary - GM_NCD_IN_CO (Reinforcing IPT capacities in Genomic Medicine, Non Communicable Diseases Investigation and international cooperation)

Executive Summary:
The aim of the proposal is reinforcing IPT capacities in genomic medicine, with applications in Non Communicable Diseases (NCD) investigation, and in International Cooperation activities.
The project targets Institut Pasteur de Tunis, an independent governmental institution, under the tutorship of the Tunisian Ministry of Health. This more than centenary institution is considered as a national and regional centre of excellence in particular in the field of infectious diseases. To answer to the new challenges of the epidemiological transition and with the increase of prevalence of NCDs, IPT has developed new activities related to the investigation of the genetic basis of monogenic and multifactorial diseases. Reinforcing these promising activities has a great potential to benefit EU research institutions through new international cooperation activities. The consortium includes Institut Pasteur in Paris a nonprofit research organization and 1 SME Synbea, specialized in strategy, organization and innovation consulting.
To achieve the project objectives the following specific actions were proposed:
Setting and implementing training modules,
Planning and implementing two pilot projects,
Establishing a communication plan,
Performing exchanges of visits between Tunisia and European Institutions and vice versa, for young and confirmed researchers
To build IPT business plan and the associated strategy of valorization and technology transfer activity in the frame of EU/Tunisian R&D cooperation.
Results: Two trainings on international project setting in the frame of European Framework Program were ensured. These trainings included theoretical and practical sessions on . In addition, infodays were organized on H2020.
four advanced courses and theoretical and practical workshops in various aspects of structural and functional genomics, with a particular emphasis on NCD investigation will be organized.

Two pilot projects will be performed, one on disease gene identification using next generation whole exome sequencing and one on a preliminary description of the genetic landscape of Tunisian population. The pilot projects will help stimulate cooperation, identify potential bottlenecks and propose improvements.
Exchange of visits between IPT, IP Paris and other EU laboratories working on relevant field were planned to improve networking capacities and acquire new competencies in genomic medicine.
Dissemination and networking activities were performed via the project website, newsletters, organization and participation to meetings and brokerage events Networking and dissemination activities stimulated collaboration between Tunisian and EU researchers in topics of mutual interest in the field of non-communicable diseases with.
A development plan was constructed for IPT in order to increase its regional coverage and to improve its response to socio-economic needs. The project results have been analyzed and recommendations drawn to IPT and to the national authorities on how to increase participation of Tunisian researchers in ERA, to tackle common regional challenges for health systems.
In the frame of this project, we have also reinforced the activities of the National Contact point and the Health Thematic Contact point in a synergistic way with other EU projects.
The project contributed to acquire and generate new knowledge this will conduct to better diagnosis of rare diseases and consequently better prevention and therapeutic measures. The project helped also to introduce new topics in the university curricula and to improve the employability of young researchers.
The ultimate goal of this project is to integrate Tunisia, a Mediterranean Partner Country (MPC), into ERA, which is one of the priorities of EU’s European Neighbourhood Policy (ENP). (Executive summary to nouveau plan Tunisie/Europe)
The project duration is 36 months.

Project Context and Objectives:
GM_NCD_In_Co project also known as Genomedika (for Genomic Medicine) aims to reinforce the capacity of the Institut Pasteur de Tunis (IPT) in genomic medicine and its applications in non-communicable diseases (NCD) investigation and in international cooperation activities.

Project context:
Major non-communicable diseases (cardiovascular diseases, cancer, chronic respiratory diseases and diabetes), represent the predominant health problem of the 21st century. Prevention and control of chronic diseases is the priority of the WHO, the United Nations and European Union Council.
Chronic diseases affect all age groups. They are the world leading cause of disabling and mortality, even in low- and middle-income countries.
Non-communicable diseases (NCDs) include chronic common multifactorial diseases caused by complex gene-environment interactions and rare genetic diseases. The Council of the European Union has adopted a series of actions and recommendations for rare diseases. Because of the high rate of consanguinity, genetic diseases are relatively frequent in Tunisia and in the region.
Since the end of the Human Genome Project (HGP) in 2003, there has been much progress in genomics. Advances in genomics generate foundational knowledge about the structure and function of the human genome and about the genetic contributions to human health and disease.
In Southern Mediterranean countries, despite advances in institutional and national health research capacities, there is a lack of competencies and a huge gap in the field of genomic medicine.
Genomedika project targets Institut Pasteur de Tunis, an independent governmental institution, under the tutorship of the Tunisian Ministry of Health. This more than centenary institution is considered as a national and regional centre of excellence in particular in the field of infectious diseases. With the increase of prevalence of NCDs, IPT has developed new activities related to the investigation of the genetic basis of monogenic and multifactorial diseases. Reinforcing these promising activities has a great potential to benefit EU research institutions through new international cooperation activities. The consortium includes Institut Pasteur, a non-profit research organization and 1 SME Synbea, specialized in strategy, organization and innovation consulting.

Project Objectives
The general objective of Genomedika is reinforcing the capacity of the Institut Pasteur de Tunis (IPT) (i) in genomic medicine, with applications in Non Communicable Diseases (NCDs) investigation, and (ii) in International Cooperation activities. This project will facilitate joint science and innovation related activities between European and Tunisian researchers in the field of NCDs. Indeed, at the national level, the objectives of the project are to increase the research activities in the field of NCDs and cooperation capacities and facilitate the participation of Tunisian researchers in relevant topics in the health.
To achieve these aims the following actions are structured within 5 work packages (WP) and are proposed as follows:
1- Strengthen IPT competencies in international cooperation and project setting in order to enhance participation of researchers to international FP projects. This will be achieved via specific training modules (WP2).
2- Reinforcing IPT scientific research and technical capacities in the field of genomic medicine and new molecular tools for the investigation of the genetic basis of NCDs. This specific objective will be achieved through:
• Setting up and implementing professional trainings via advanced courses and workshops in IPT (WP2), four advanced courses and theoretical and practical workshops in various aspects of structural and functional genomics are planned as well as on genomic research valorisation.
• Exchange of visits between IPT, IP and other EU laboratories working on relevant fields are also planned to improve competencies in genomic medicine (WP3) and networking capacities as well (WP4).
• Two pilot projects are programmed, one on a preliminary description of the genetic landscape of Tunisian population and one on disease gene identification using next generation whole exome sequencing . The pilot projects will help stimulate cooperation, identify potential bottlenecks and propose improvements (WP3).
3- To stimulate collaboration between Tunisian and EU researchers in topics of mutual interest in the field of NCD with networking and dissemination activities (WP4).
4- To build IPT business plan and the associated strategy of valorisation and technology transfer activity (WP5). The development plan will serve to increase IPT visibility, regional coverage and to improve its response to socio-economic needs, in particular, to increase job opportunities.
5- The project coordination is ensured by IPT (WP1).
The project results will be analyzed and recommendations drawn to the national authorities on how to increase participation of Tunisian researchers in ERA, to tackle common regional challenges for health systems.
The ultimate goal of this project is to integrate Tunisia, a Mediterranean Partner Country (MPC), into ERA, which is one of the priorities of EU’s European Neighbourhood Policy (ENP).

Project Results:
In order to strengthen the IPT scientific research and technical capacities in the field of genomic medicine, several professional trainings have been organized in IPT (WP2).
- International course on “Genomic Diversity and Health of Populations” held on April 16-24, 2012.
- Theoretical and practical course on “Sequencing and genotyping: Novel technologies at the service of human genetics” held at Institut Pasteur, Paris on March 4-8, 2013.
- Four hybrid courses have been organized in collaboration with the Euro-Mediterranean Centre in Bologna, Italy, with a remote transmission of a theoretical course and a practical training organised locally in IPT. Three courses on “Next Generation Sequencing” were held on 13-16 May 2012,
17-20 May 2013 and May 06-10, 2014. A fourth hybrid course on “Medical Genetics” was organized on 11-15, May 2014.
- International course on “Functional Genomics” was held on March 31-April 4, 2014.
- Course on “Introduction to biostatistics and phylogeny” was held on 14-18 April, 2014.
- Practical training on research activities valorisation was held on 13-14 May 2014.
- A symposium on “Consanguinity and hereditary rare diseases: Challenges and perspectives in post-genomics” was held in September 22nd-27th 2014.
In order to strengthen IPT competencies in international cooperation and project setting, trainings were organized in IPT (WP2).
- A theoretical and practical course took place on 27th-28th June, 2012.
- An infoday on H2020 was organized on 20th September 2013.
- A theoretical and practical training on H2020 project setup was organized on 15th May 2014. Two pilot projects have been planned (WP3).
For the first pilot project, a meta-analysis has been performed in order to determine the Tunisian genetic landscape based on maternal and paternal lineages, as well as bi-parental molecular markers. Independently from their type, genetic markers indicated high genetic affinities among North African populations with some outliers. We have also analysed genomic regions in relation with the susceptibility to breast cancer. This analysis showed peculiarities of Tunisian population allele frequencies and LD regions.
For the second pilot project, we evaluated NGS for disease gene identification in patients with various phenotypes. Preliminary analysis of exome data showed very promising results for some phenotypes.
Regarding dissemination activities (WP4), each member of Genomedika team has contributed to communicate formally and informally on the project, in several events. Communication material were given or presented in different forms: brochure, CD, posters… A project website (www.genomedika.org) has been created and social Medias were also used.
Regarding establishing the institutional development plan (WP5), several workshops have been organized between IPT and Synbea teams in connection with other National Research and Innovation system stakeholders and international experts. A supporting document for fund raising has been elaborated. The fund raising strategy conducted to the participation to several national and international call for proposals. Several applications were successful.

A strategic development plan for IPT research results valorisation, in particular in the field of genomic medicine has been elaborated as a sum of business units on bio-banking, diagnosis, bioinformatics and training services. Two supporting units have also been proposed one for R&D and one platform for rare disease research and support to patients and their families. Recommendations are proposed at the institutional and organizational, level. These include:
- Promotion of scientific excellence
- Better definition of the research priorities
- Distinguish between diagnosis and research activities
- Mutualisation of the resources and creating shared infrastructure and services
- Strengthen and sustain strategic partnership
- Define, adapt and reinforce the ethical, regulatory and legal framework to better conduct genomic research and international cooperation activities

Potential Impact:
The potential impact of the project results is the following:

➢ Contribution to R&D capacity building and management in Tunisia.

The project has contributed to build capacities in specific areas of health research and internalizing advances in technology as well as in international collaborative projects management.
The project will help better identification of research priorities for Tunisia and at a wider extent to the Mediterranean and MENA regions (Middle East and North Africa) in the field of health.

➢ Enhanced participation of Tunisian researchers in the H2020 Program.
The specific training in EU project setting, interactions between EU/Tunisian scientists and dissemination and networking activities achieved during this project will enhance participation of Tunisian researchers to H2020, in particular the societal challenge health, demographic change and wellbeing.

➢ Increased visibility and scope (regional coverage, subjects, and activities) of IPT with increased linkage with economic and social environment.

The networking and dissemination activities have increased the visibility of IPT and raised awareness in the region about the importance of medical genomics and associated economic activities.
Thanks to the strong network that has been built at the regional level with Mauritania, Morocco, Algeria and Libya (for the later, this depends strongly on further evolution of the situation in the country), together with various European partners, it is expected that the project would have a wider regional impact.

The results of the pilot projects will help to increase the use of next generation sequencing and genotyping techniques in health research and to improve the health of populations and decrease the burden of non-communicable diseases.

It is expected that thanks to the project new services related to genomic medicine, bioinformatics and omics in general will be developed in Tunisia and in the region.

➢ Networking with other research centres in Member States or Associated Countries (mobilising the human and material resources existing in a given field, disseminating scientific information as well as the results of research, facilitating communication between the centres having similar scientific interest).
Several new collaborations have been set during Genomedika project implementation. This will improve cooperation between Europe and Tunisia. A measurable increase in the effective collaborations is expected, as well as improvement in the mutual understanding of the respective research systems in Europe and in Tunisia.

➢ Increased job opportunities that encourage gender equality in the country, in particular for young scientists (measures to avoid 'brain drain' phenomena: better career opportunities, better work conditions, access to research infrastructures).
Young researchers have acquired new competencies, improved their curricula, consequently, they have better and new career opportunities.
Synergies between the various work packages in particular training activities, pilot projects and dissemination activities act as multipliers to increase employability.
The pilot projects raised awareness about the importance of next generation genomic tools for the investigation of the genetic basis of diseases. Introducing these tools in health research will benefit population health and economies. Concretely medium term expectations are the creation of SMEs proposing various services related to genomics and bioinformatics.

➢ Spreading excellence, exploiting results, disseminating knowledge:

Each member of Genomedika has contributed to the dissemination of the project, at each event (workshop, meeting, conference…), in the context of the project or in any another context, provided a good occasion to communicate on the project, particularly to cover all stakeholders in the research and innoveation value chain.
For the majority of these dissemination activities, communication material were given or presented (brochure, powerpoint presentations, posters…).
In addition to these dissemination activities, regular communication on the project and its thematic (genomic medicine and non communicable diseases) was provided through the project website www.genomedika.org the Institut Pasteur de Tunis website and the project social Medias, on facebook (More than 300 followers) and linkedin (More than 50 members), which gave to the project a continuous visibility on the web, and a tool to receive feedbacks and suggestions on the project activities.
The project consortium decided to be more present on the web by creating other social acoounts (Twitter, pinterest, slideshare…). It gives to the project a bigger and more positive visibility. The more the project communicate by himself on the web, the more the message belongs to the project, and is positive and true.
The website reputation-vip who measures the e-reputation of institutions, names, brands… gave to Genomedika the score of 100. That is the sign of a very good visibility and positive e-reputation.
We also decided in the second phase of the project to follow the recommendations of the European Commission in terms of communication for H2020 projects : ” new emphasis on open access to research publications and experiments with open access to other results”. That is why we created an account on the principal platform of curation, scoop-it. Curation means “gathering, organizing and online presentation of content related to a particular theme or topic ». In case of our project, the NCD and the activities of the project. More than 1300 visits on the Genomedika scoop-it page have been noted. In addition to curation, our politic of open access which is in line with the Institut Pasteur de Tunis institutional communication strategy is to let people read, share and use our documents. Slideshare is a good tool for this purpose, and the many visits we noted on our documents on slideshare is the sign that there is a interest on the activities of project and on european projects in the health domain. The documents we put on slideshare are quite often read. Some of them have been read more than a 1,000 times.
The multiple training activities and the project events were the occasion to share the knowledge acquired during the project at the national and regional level. In addition, the preliminary results of the pilot projects have been published in international scientific journals.

List of Websites:
The project website: www.genomedika.org

Project Contacts:
Beneficiary 1: Institut Pasteur de Tunis (IPT)
Project coordinator: Sonia Abdelhak sonia.abdelhak@pasteur.rns.tn
Project deputy coordinator: Houda Yacoub houda.yacoub@pasteur.rns.tn
Project coordinator assistant: Olfa Messaoud olfaezzeddine@gmail.com
The Project communication officer: Hichem Ben Hassine hichem.benhassine@pasteur.rns.tn

Beneficiary 2: Institut Pasteur (IP)
Project PI: Kenneth McElreavey kenneth.mcelreavey@pasteur.fr
Project co-PI: Anu Bashamboo anu.bashamboo@pasteur.fr

Beneficiary 3: Synbea
Project PI: François Tamarelle francois.tamarelle@gmail.com
Project co-PI: Jacques Louis jaklouis@gmail.com

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