Project name CEGA4RD - Central European Genome Alliance for Rare Diseases
Objective Objective 1.1
Priority Innovation and knowledge development
Aim The main project objective is to develop innovative diagnostic tool for RD, based on the human genome sequencing and to implement new technology in clinical practice, health systems and related policies of CE countries. The project outputs will have several impacts-innovative diagnostics will improve diagnostic efficiency, decrease health system costs for genetic testing and significantly improve access/equity of genomic diagnostics in CE region.
The CEGA4RD consortium will address the EU strategy for smart, sustainable and inclusive growth and for achieving economic, social and territorial cohesion, within Priority axis 1-strengthening research, technological development and innovation. The translation of research into clinical practice, the innovative outputs (WP1), development of new policies (WP3) and inclusion of SMEs (WP1 and WP2), and all above mentioned section C.1 are directly answering the EU programme goals.
Programme SO1.1 aims at connecting actors of the innovation system and CEGA4RD addresses it by creation of a transnational consortium and by having different stakeholders involved. CEGA4RD plans to enhance knowledge transfer between all stakeholder institutions, research, education and public sector, including private SMEs. Moreover, CEGA4RD envisions creation of common guidelines and policies, thereby facilitating future improvements and sustainable collaboration in CE region. This will foster development of personalised medicine in the CE region, and beyond.
Results The main CEGA4RD project results are 1) Development of innovative diagnostic tool for diagnosis of RD (tool indicator) - collective open innovation platform will be developed for interpretation of genomic data; 2) Realisation of pilot study (pilot indicator) to demonstrate the impact of technology transfer and practical utility of new tool as well as to evaluate the new innovative genetic testing processes and services;3) professional guidelines and policies (Strategies indicator) on implementation of genome-based technologies into health system.
All 3 mentioned results support sustainable connections between partners and throughout the CE region and increase innovation capacity within the region, as such cooperation has not been established in CE region before.

The poposed project results will establish a sustainable transnational innovation and knowledge network – since CEGA4RD activities include research actions, which will be translated into clinical practices and will involve 2 SMEs. In doing so, project will build transnational connections for development of new services/tools and test them via a pilot study approach. Finally, the CEGA4RD consortium envisions even wider regional associations, since we plan to develop new guidelines and policies by inviting CE region stakeholders and key actors from neighbouring countries as well, to make the resulting policies as broadly applicable as possible and relevant.
Cost 3.364.000 EUR
Duration 2018-2020
Partners involved LP – UMCL (S), UNIUD (IT), BURLO (IT), IGATS (IT), KDB (HR), University Hospital Motol (CZ), IHETA (CZ), University of Debrecen HU), GENIALIS (SI), University of Rijeka (HR), Medical University Innsbruck (AT).
Partners requested Yes additional partners are wellcome
Innovation Currently, there is no common policy for RD genomic diagnostics in the EU28. New technologies and clinical bioinformatics expertise is more accessible in affluent Northern- and Western EU regions, while the CE is increasingly lagging behind. CEGA4RD plans to address these deficiencies by collaboration of key CE academic institutions, researchers, clinicians, educators and SMEs. This interdisciplinary and inter-sectoral partnership will jointly address common challenges by creating innovative solutions and generate new common policies.
Firstly, in order to overcome the gap between rapid technological advances and genomic variant interpretation challenges, CEGA4RD will develop an analytical platform (see WP1), for the analysis and interpretation of genomic data, establishing RD patients diagnosis and personal genomic health data. This innovative approach will contribute to the understanding of the vast amount of individual’s and general population’ genomic variation.
Secondly, the project will generate new CE population genomic data (see WP1), which is the key for understanding the state of health and disease in RD patients (see WP2). A pilot study on a representative set of RD patients from CE region will demonstrate diagnostic efficacy of the developed diagnostic tool. CE data are greatly underrepresented in international variant databases and we will share the outcomes, thus complement existing international initiatives and provide a sustainable genomic data exchange platform.
Thirdly, project partners will solicit collaboration with key regional stakeholders (e.g. health ministries, health insurance companies, patient organisations) with the aim to develop new genomic diagnostics policies in RD, and beyond (see WP3).
In summary, CEGA4RD outcomes will cross the gap between the CE and more advanced EU regions in the genomic diagnostics field, enable development of personalised medicine and serve as a model for common diseases in the future.
Innovation in healthcare is of crucial importance in order to foster economic growth and development, competitiveness, job creation, improvement of healthcare systems and overall quality of life of EU28 populations. Rare diseases (RD) represent an important public health issue-all European healthcare systems face important challenges related to improvement of early diagnostics, therapy and prevention. Recently, new generation of genomic testing opened the possibility for significant improvement in RD diagnostics. However there are significant barriers for implementation of genomic medicine in the public healthcare systems - lack of standardised genomic applications, limited evidence on the benefit and value, limited access to expertise, lack of evidence for establishing reimbursement models in solidarity-based systems.
In CE, where health inequalities represent a particular issue, both technological and health policy challenges can only be addressed through the development of new-, better-, more efficient-, innovative diagnostic models for RD. This CEGA4RD approach will maximise complementarities and synergies of individual partners from a representative group of CE partners.
Currently, there is no genome data available from the CE population – neither healty nor patients. Even more, there is no standardized diagnostic tool to facilitate transfer genome information generated by new technologies into clinical diagnostics.
Procedures, regulations, best practices and policies related to the field of genomic technologies need to be developed and agreed upon at the international level, since these cannot be achieved efficiently by individual regions or countries when acting alone. Collaboration between different countries and stakeholders is thus essential for establishing an efficient and continuous progress towards better and equal healthcare, which could be achieved only in collaboration of organisations from different CE countries.
Follow up of SIGN (Slovenian Italian Genetic Network) INTERREG project (2013-2015)

Follow up fundings