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BIORISE Report Summary

Project ID: 669026
Funded under: H2020-EU.4.c.

Periodic Reporting for period 1 - BIORISE (Establishment of the Bioinformatics ERA Chair at the Cyprus Institute of Neurology and Genetics)

Reporting period: 2015-07-01 to 2016-09-30

Summary of the context and overall objectives of the project

CING is the most advanced organisation of Cyprus in the fields of Neurology, Genetics and Biomedical Sciences. Through BIORISE CING will attract talented bioinformaticians to satisfy urgent needs for Bioinformatics analyses. Therefore, establishment of the Bioinformatics ERA Chair will complement and upgrade CING, since it will enhance the timely analysis of data and contribute towards excellence in extraction of reliable and meaningful results from large biomedical datasets. This will increase the capacity and level of excellence of CING thus promoting participation in competitive research proposals at national and international levels. Also, BIORISE will facilitate the introduction of a Bioinformatics course within the postgraduate programmes of the Cyprus School of Molecular Medicine (CSMM), thus promoting the education and training of young scientists in the cutting edge field of Bioinformatics. BIORISE will have an impact at organisational, national, European and international level resulting in new multidisciplinary networks and increasing mobility thus complementing and upgrading existing infrastructures.
The BIORISE programme is important for society, in the areas of health, economy, research and education. It is estimated that at least 5% of the population in Cyprus is suffering from genetic diseases, with the cause remaining unknown for the majority of cases. These diseases include congenital heart defects, neurological diseases, myopathies, etc. BIORISE is expected to make a contribution towards understanding the pathogenetic mechanisms leading to the onset of various genetic diseases, thus helping in providing timely and accurate diagnosis that will result in better care and treatment for the patients. The economic cost that arises from the loss of the patients’ most productive years, as well as their caregivers will also be minimised.
The Bioinformatics field is at infancy stage in Cyprus. Through BIORISE, CING and Cyprus in general will expand research capacity, and upgrade the quality of research being conducted. Moreover, CING personnel will be scientifically enhanced by learning to use various Bioinformatics tools and incorporating Bioinformatics to their work routine.
BIORISE will also provide the opportunity of training new Bioinformaticians in Cyprus. This is expected to upgrade higher education in Cyprus and attract more students both national and international.
The overall objectives of BIORISE are:
1) Recruitment of the Bioinformatics expert who will hold the Bioinformatics ERA Chair and who will also establish a core Bioinformatics Group at the CING.
2) CING Bioinformatics needs assessment and intervention in order to increase capacity and improve the research and innovation performance of the Institute.
3) Educate and train the next generation of scientists (PhD and MSc student levels) as well as researchers on the applications and uses of the various Bioinformatics tools in order to empower the scientific workforce.

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

Within this report period the following work has been performed:

• Formation of the Scientific Committee, to deal with all the scientific aspects of the project.
• Employment of the Project Manager.
• Creation of a communication plan to outline the activities for announcing BIORISE outcomes, and of a dissemination plan to ensure optimal distribution of information to all relevant stakeholders.
• Formation of the BECH Recruitment Committee for the recruitment of the Bioinformatics ERA-Chair Holder (BECH).
• Employment of the BECH.
• Design and development of the project website to ensure the best possible project dissemination to all relevant stakeholders.
• Formation of the Ethics Advisory Board to overview the project’s ethical issues, help in addressing them and secure compliance with ethical standards.
• Formation of the External Scientific Advisory Board to ensure that the project’s objectives are accomplished in time, and to provide advice and guidance on how to maximize the impact of BIORISE.
• Formation of the Intellectual Property Committee to deal with intellectual property issues that may arise from the research and innovation output of BIORISE.
• Formation of the Bioinformatics Group Recruitment Committee, to recruit four postdoctoral researchers.
• Employment of 4 Postdoctoral Researchers.
• Formation of the Bioinformatics Course Syllabus to be offered as an elective for the CSMM postgraduate programmes.
• Preparation of a Report describing the CING Bioinformatics needs assessment and proposing analysis models.
• Call for tenders regarding the hardware and software required by the Bioinformatics Group.
• Tenders evaluation report regarding the hardware and software required.
• Initial preparation of some bioinformatics pipelines related to NGS and Proteomics data.
• Submission and approval for a proposal regarding HPC resources (computing time and storage) in the Cyprus Super-Computing Facility (CyTera).
• Participation in the preparation and submission of several grant proposals.
• Talks and presentations on Bioinformatics within and outside CING.
• Application for ethical approval of the BIORISE programme by the Cyprus National Bioethics Committee.
• Participation in BIORISE communication and dissemination activities.

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)

A high-calibre Bioinformatics expert has been hired to serve as the BECH. His experience and vision will enable CING to organise a core Bioinformatics Group to facilitate the work of all other CING Departments and expand the research capacity of the organisation. This will enable faster and robust extraction of significant results and directly impact on the quality of research and innovation landscape of the CING, as well as of Cyprus.

The needs and gaps of the CING Departments in Bioinformatics have been addressed by the BECH in order to introduce robust analysis models. Bioinformatics pipeline analysis that is under development will facilitate the streamlining and basic analysis of the different types of data produced by CING researchers. The development of tools to enable comparison of data with established available databases is also an important task of the Bioinformatics Group. Direct comparison of data such as NGS produced DNA sequences will enable confirmation of novel findings and increase the quality of publications. These Bioinformatics workflows will strengthen research efforts and will also enable the diagnosis of many families and patients who remain undiagnosed because of the limitations of the previous DNA analysis technologies.

The CING established the CSMM in 2012 to offer post-graduate programmes in Medical Genetics, Molecular Medicine, Neurosciences and Biomedical Research. The BECH has prepared a syllabus for a Bioinformatics course that is under approval and will be available to CSMM students as an elective starting in 2017. This course will complement the CSMM programmes and will contribute to educating the next generation of scientists, in a field in demand especially in Cyprus. Also, 3 enrolled PhD students of the CSMM have started their research programmes with an emphasis on Bioinformatics and are co-supervised by the BECH. Furthermore, the CING scientific staff will have the opportunity to upgrade their knowledge and skills in the field through specifically designed training courses. This will strengthen the vision of CING to operate as a Centre of Excellence and also upgrade the competitiveness of the Cypriot teams.

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