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Cypriot National Node

Cyprus is actively involved in the ID-EPTRI project, co-leading the Thematic Research Platform on “Paediatric Biomarkers and Biosamples” and supporting other work packages through the participation of “The Cyprus Institute of Neurology and Genetics” (CING). With the implementation of the research infrastructure, Cyprus will be leading the creation and co-ordination of this platform.

The Cypriot respondents of the EPTRI WP3 surveys declared to have expertise in “Paediatric Medicines Discovery” (60%) mainly in haematology, infectious diseases and ophthalmology, in “Paediatric Biomarkers and Biosamples” (30%) mainly in nutrition and oncology, and in “Developmental Pharmacology” (10%) mainly in haematology and neurology.

The Directorate General for European Programmes, Coordination and Development (DG EPCD) of the Cypriot Government has granted its official political support to EPTRI through a letter signed on the 27th of November 2019.

Furthermore, EPTRI received the letters of support from the Cyprus Institute of Neurology and Genetics, the University of Nicosia, the European University of Cyprus, the University of Cyprus, the Frederick University of Cyprus, the Archbishop Makarios III Hospital, the Larnaca General Hospital and the Cyprus Federation of Patients’ Association. Moreover, all these Institutions are included in the EPTRI Memorandum of Understanding stating the intent to develop the EPTRI Infrastructure and organise the research national Institutes into a National Node (Cypriot Hub) to link and support the Cypriot scientific community.

The Cypriot Hub (EPTRI-CY) will be coordinated by “The Cyprus Institute of Neurology and Genetics” and will be constitute by the following Institutes:

  • The Cyprus Institute of Neurology and Genetics (CING). CING is a private, non-profit, bi-communal, medical, research and academic centre. CING performs both basic and translational research in medical and biomedical sciences including neurology and genetics. Many of its Departments will be implicated in the development of the infrastructure.
  1. At the Molecular Genetics Thalassaemia Department, researchers use a range of omics techniques for the identification of drug targets to increase the levels of foetal haemoglobin and for the diagnosis of early stage liver fibrosis in thalassaemic patients. Moreover, they are involved in the identification, characterization and validation of paediatric biomarkers relating to disease severity in beta-thalassaemia patients. They are also optimising gene therapy vectors for the treatment of haemoglobinopathies while also working on non-invasive methods for the detection of beta thalassaemia mutations in foetuses. The Department has set up and is curating the ITHANET portal on haemoglobiopaties for clinicians, researchers and patients, integrating information on news, events, publications, clinical trials, organisations, experts, databases of disease-modifying variations and epidemiology.
  2. At the Electron Microscopy and Molecular Pathology Department, the researchers study, amongst others, issues related to nutrition and cancer. The Department offers molecular tests for diagnosing predisposition to familial cancers and for the detection of pharmacological targets for existing and upcoming therapies in oncology. Additionally, they are studying biomarkers relating to cancer in cellular and animal models. The Department has created and is running a state of the art proteomics and metabolomics facility for CING. Moreover, they characterise and investigate synthetic and natural compounds for their potential to influence apoptosis, thus contributing to the process of experimental drug development.
  3. Cytogenetics Department’s research focuses mainly on the diagnosis and prevention of mental retardation. It has a strong record on translational research with the establishment and commercialisation of a non‐invasive test for the diagnosis of Down syndrome from maternal blood. Though the use of technologies such as high resolution microarrays and NGS, but also through the development of proprietary tools, it is performing in-depth investigation into the underlying mechanisms responsible for development and inheritance of intellectual disability and autism. As a consequence of such innovative work, it has defined new markers for X‐linked mental retardation.
  4. The research’ programmes of the Department of Biochemical Genetics focus mainly on the epidemiology of inherited metabolic disorders in Cyprus and their characterization at the biochemical and molecular level. Many of the disorders studied first exhibit symptoms at infancy or childhood. Timely diagnosis is important for early treatment and improved survival or quality of life.­
  5. The research activities of the Department of Cardiovascular Genetics and the Laboratory of Forensic Genetics centre around critical and controversial issues in the field of forensic genetics but also the field of cardiovascular diseases where genetic, epigenetic and proteomic studies are carried out in order to identify mutations for diagnostic purposes and biomarkers of clinical relevance.
  6. The Bioinformatics Department is working on computational methods that act as bridges between molecular biology, systems biology and molecular medicine, exploiting computational intelligence, high performance computing and network analysis. Some of the areas they are working on include: building pipelines to analyse omics from various sources regarding the profiling of the transcriptome (RNA-seq), the genome (DNA-seq, exome-seq), and the proteome (MS data), developing biomarker discovery and drug repurposing pipelines, carrying out Chem-Bioinformatics analyses and developing systems for computer-aided diagnosis.
  7. The Neuroscience Department’s research interests focus on investigating the cellular and molecular mechanisms causing neurological disorders such as inherited neuropathies and leukodystrophies. The onset of some of these disorders may occur anytime from early childhood through late adulthood. The development of novel experimental models by this Department has led to a better understanding of disease pathogenesis in demyelinating disorders like the X-linked Charcot-Marie-Tooth disease and Multiple Sclerosis. Novel gene therapy approaches that could be translated into therapies for the treatment of demyelinating neurological diseases are underway.
  8. The Clinical Genetics & Genomics Department is involved in research projects focusing on the identification of genetic factors underlying rare eye anomalies, intellectual disability, congenital malformations as well as undiagnosed conditions. Congenital malformations are important causes of mortality among infants and children. Therefore, through a project that brings together local experts in the fields of paediatrics, genetics, medical ethics and epidemiology as well as patient advocates, the Department is conducting epidemiological research on congenital malformations in Cyprus.
  9. The Department of Molecular Genetics, Function & Therapy is implicated mainly in research to muscular dystrophy and inherited endocrinological disorders. Regarding muscular dystrophy, the Department focuses on the identification and characterisation of serum biomarkers which associate with the progression of Myotonic Dystrophy type I. Moreover, there is interest in the development of genetic therapeutic approaches for muscular dystrophy and the enhancement of the delivery of therapeutic genetic material to muscle. Finally, the Department is also active in the identification of molecular causes for inherited endocrinopathies and the elucidation of the mechanisms for premature puberty.
  • European University of Cyprus (EUC) is the first university in Cyprus to be rated by QS World University Ranking (QS Stars). EUC research projects are focused on the fields of drug delivery, cancer genetics/genomics and metabolic diseases. The Department of Life Sciences with Biomedical Sciences Program and Research Methodology and Epidemiology; and the Laboratory of Pharmaceutical Technology supported the relevance of the project.
  • University of Nicosia (UNIC) is currently involved in a broad area of research including medicine, drug discovery, synthesis of compounds and chemogenomics. The Pharmaceutical Chemistry at the Pharmacy Program and the Human Biology program of the Department of Life and Health Sciences supported EPTRI.
  • University of Cyprus (UCY) is a pioneer research Institution which conducts rigorous and innovative research in the fields of human genetic diseases and genomics, carcinogenesis and research in vitro and in vivo, using mammalian cell lines, bacteria, rodents and zebrafish. The Centre for Cellular Plasticity, the Experimental Pharmacology Laboratory, the Respiratory Physiology Laboratory and the Paediatrics Department of the UC Medical School and the Molecular Medicine Research Centre have provided their endorsement to the project.
  • Frederick University Cyprus (FU) has a strong focus on academic research with a Research Center (FRC) studying amongst others drug discovery and tumour treatment. The Department of Pharmacy has endorsed the project.
  • Hospital Archbishop Makarios III is one of the main hospitals in Cyprus, born by the vision of his president Archbishop Makarios which envisioned the creation of a new Medical Building Complex with well-trained staff and modern equipment to provide the best medical care to expectant mothers and children. The aim of this institution is to be a fully independent institution with potential for future expansion. The Department of Thalassemia Clinic and the Paediatric Oncology/Haematology Clinic provided their endorsement to the EPTRI project.
  • Larnaca General Hospital; the hospital’s goal is to provide increasingly better and more comprehensive services to protect the health of its patients. Its mission consists of providing care at primary, secondary and tertiary level, running programs of continuous education and training for its health professionals and the development and evolution of medicine and nursing research. The Paediatric Department supported EPTRI.
  • Cyprus Federation of Patients’ Associations represents 35 Associations dealing with chronic diseases. The Federation cooperates with its Association members with the purpose of promoting their aims and solving general problems. It also promotes the protection of patients’ rights at all levels, according to Cypriot and European legislation. The President of the Board provided his endorsement for the EPTRI project.