Molecular Genetics Thalassaemia Department
Overview
MISSION
The mission of the Department is to function as a reference centre in the areas of haemoglobinopathies and provide specialized diagnostic services, advanced education and research.
OBJECTIVES
1. Provision of specialised diagnostic services, mainly in the areas of haemoglobinopathies and Duchenne Muscular Dystrophy.
2. Prenatal molecular diagnosis for β-thalassaemia, α-thalassaemia and other haemoglobinopathies, molecular diagnosis for carriers and patients, pre-implantation genetic diagnosis (PGD) for β-thalassaemia and α-thalassaemia.
3. Development of drug therapies for thalassaemias, based on pharmacogenomic and pharmacogenetic studies for hydroxyurea and other drugs.
4. Development of new methods for the NIPD of haemoglobinopathies.
5. Development of haemoglobinopathy diagnosis based on microarray technology.
6. Development of gene therapy for thalassaemia in collaboration with centres in the UK, Australia, Greece and the USA.
7. Provision of training to visiting scientists on molecular diagnostic techniques for haemoglobinopathies.
8. Supervision of PhD and BSc researchin-house in collaboration with universities.
8. Organisation of haemoglobinopathy conferences and workshops and of European School of Medical Genetics (ESMG)-headed hybrid course programmes.
9. Coordination of ITHANET a web portal specific for haemoglobinopathies, which allows the exchange of information, sharing of ideas and the forging of collaborations between scientists.
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.
