Description
The overall objective is to improve public health and reduce health inequalities. This will be achieved by the establishment of a National Translational Facility in Cyprus that will investigate biological samples from common and rare diseases such as cancer and neurological disorders, to identify biomarkers for early detection and diagnosis and to use better targeted therapeutic approaches. As a result, the project will contribute to the prevention of the above-mentioned diseases, to combating social exclusion of patients, while more targeted therapeutic approaches will be used for patient treatment improving their quality of life. The project will strengthen the on-going collaboration between scientists, doctors and NGOs between the Greek and Turkish communities aiming at strengthening international cooperation in this area. The target groups include a) >50 young scientists, doctors and health professionals, b) >500,000 individuals from patient's associations and the general public.
Summary of project results
There was a need to upgrade the equipment infrastructure of CING that is used for genomics and proteomics analyses. As a result of the award of this project new state-of the art equipment has been purchased that fulfilled the need to upgrade the genomics infrastructure. In addition, this allowed the purchase of additional equipment that can perform proteomics and metabolomics analyses strengthening the research potential of CING, which was beyond our original expectations. As a result the CING is now more competitive in research funding and are already participating in 2 large scale EU H2020 projects. The following results were delivered: 1.Procurement of Equipment: Purchased 1 NGS and 2 proteomics platforms 2.Recruitment of patients: More than 1.000 patients were analysed 3.Proteomics Analysis: Three potential biomarkers were identified for breast cancer 4.Genomic Analysis: New causative genes/mutations were identified for neurological disorders, intellectual disability and breast cancer 5.Evaluation of new Biomarkers: The validation of biomarkers in 3 above is ongoing 6.Construction of a biobank: Samples recruited have been included in the CING Biobank Phenotype-genotype correlations: The mutations identified in 4 above were critical for correlating phenotype with genotype. This contributed to the diagnosis of many CING patients and families who were undiagnosed for many years due to the lack of the technology at CING The major benefit is the upgrade of analytical equipment, the characteristic of which is that it is high-throughput, meaning that we are now in a position to analyse multiple samples from patients for many different molecular targets. For example this enables the simultaneous analysis of many different genes that are candidates for one disease such as breast cancer, peripheral neuropathy, ataxia and intellectual disability. As a result of this capability more candidate genes can be identified as causative for the above diseases. The immediate outcome of this is the fast and conclusive diagnosis of patients and their families that required a lot more time and resources using the previous methods. CING will increase its diagnostic yield by 20-30% in all diseases that are investigated benefiting patients and reducing inequalities.
Summary of bilateral results