The department of Medical Genetics of Athens University Medical School is located
in the largest paediatric hospital in Greece and is involved in genetic services,
research and teaching for numerous aspects of medical and molecular genetics. Besides
activities in other fields the department has carried out extensive work characterising
haemoglobinopathies in Greece on a molecular level and correlating phenotypes with
genotypes in patients and carriers. Also with respect to haemoglobinopathies, it
provides
- genetic services for haemoglobinopathies, including characterisation of mutations
in carriers and patients, molecular characterisation of atypical cases, prenatal
diagnosis, preimplantation genetic diagnosis (in special cases) and counselling
of patients, their families and prospective parents
- development of new approaches and methods for diagnosis, including kits for the
identification of mutations and non-invasive prenatal diagnosis.