Molecular Genetics Thalassaemia Department
Research activities include the reactivation of fetal haemoglobin by chemicals, for the therapy of β-thalassaemia, development of a new DNA chip for the molecular diagnosis of thalassaemia, development of methods for the Non-Invasive Prenatal diagnosis of β-thalassaemia, pharmacogenomic analysis of β-thalassaemia patients under hydroxyurea treatment, the Ithanet portal and advancing and customising gene therapy for β-thalassaemia.
Service related research programs
• Studies on the molecular basis of different forms of thalassaemia in Cyprus and other neighbouring countries.
• Determination of the frequencies of the different forms of thalassaemia
• Standardization of simple methods for the identification of thalassaemia mutations
Genotype/phenotype correlation studies in thalassaemia
• Genotype/phenotype correlation studies in thalassaemia intermedia patients and determination of the genetic factors responsible for ameliorating the clinical condition of beta-thalassaemia patients.
• Genotype/phenotype correlation studies in HbH disease patients
• Genotype/phenotype correlation studies in carriers of thalassaemia traits
Drug therapy for thalassaemia
The aim of the project is to find compounds that increase the level of foetal haemoglobin and can be used for thalassaemia treatment.
• A large number of compounds are examined and their effect on the level of foetal haemoglobin is determined. New medicinal products will be developed.
• The effect of a number of drugs on the reactivation of foetal haemoglobin is examined. Groups of patients receiving each drug are examined and the values for a number of parameters (FBC, HbS levels, HbF, F cells, mRNA and others) are determined.
Gene therapy for thalassaemia
Gene-therapeutic intervention promises the permanent cure of thalassaemia, and our group is developing a series of innovative tools designed to provide
• generally enhanced treatment efficacy compared to standard gene-therapy vectors
• specific activity for β-thalassaemia mutations common in Cyprus
Our current work is based on a well-characterised, efficient and safe lentiviral vector system combined with shRNA technology and draws on murine model systems and human primary cells for analysis of safety and efficacy.
Development of a diagnostic chip for thalassaemia
The aim of this work is the introduction of a large number of mutations/polymorphisms of the beta globin locus on a chip and the subsequent validation of the chip as a diagnostic tool. This work is carried out in the course of the Framework program 5 (FP5) EUMEDIS.
Non-Invasive Prenatal Diagnosis for Thalassaemia (NIPD)
The aim of the project is to determine whether the analysis of cell-free foetal DNA detected in the maternal blood can be used for the reliable determination of foetal single gene disorders, especially for haemoglobinopathies. This work is carried our in the course of the Framework Program 6 (FP6) SAFE.
Globin expression studies.
The aim of this project is to streamline and standardise a number of expression systems to expedite studies of potential globin mutants/variants identified by the department.
Ithanet - Electronic infrastructure for thalassaemia research network
Ithanet is a Euromediterranean network of research centres conducting molecular and clinical research on thalassaemia and related haemoglobinopathies. The consortium of Ithanet comprises all major European research institutions active in the field and a number of collaborating partner institutions from non-EU Mediterranean and Black-Sea countries. Ithanet associates 25 partners from 16 countries, including scientific and medical communities, patients and their families, and patient associations.
Ithanet aims to strengthen research and treatment of haemoglobinopathies by:
creating an inclusive research environment
promoting common research strategies and resources
facilitating the dissemination of research results
improving quality and availability of health care services
The CING Thalassaemia Department is the coordinating partner of Ithanet, and a member of the Steering Committee.
Identification of beta-thalassaemia mutations in ancient skeletal remains
The aim of this project is the molecular analysis of skeletal remains found in 12th-16th century AD graves in an archaeological site in old Nicosia . Osteological examination of a number of infant remains, identified specimens which exhibit skeletal malformations typical to untreated thalassaemic children. The results of this study will give valuable information on the history of thalassaemia in Cyprus .
My group is the central national and regional reference laboratory for molecular diagnosis of thalassaemia. In addition to advanced diagnostic methods that provide the highest level of reliability for our diagnostic work, we perform cutting-edge research on new treatments for thalassaemia and non-invasive diagnosis. We work closely with the national Thalassaemia Centre, with national and international collaborators and, most importantly, together as a team.