Department of Medical Genetics-National & Kapodistrian University, Athens


Pediatry, Genetic

Pr Emmanuel Kanavakis
(00 30) 210 779 5553

Dr Maria Tzetis
(00 30) 210 746 7460

Myrto Poulou

The Department of Medical Genetics (DMG), Medical School, University of Athens, is the only major public, academic medical genetics centre for the whole of Greece. In its role as a university clinic, it has teaching and research obligations, and as a clinic located within the largest pediatric hospital in Greece it offers services which cover all aspects of genetics, including clinical genetics, molecular genetics, cytogenetics and molecular cytogenetics. In accordance with the expectation that a large number of patients admitted to pediatric clinics have disorders that are at least partly genetically determined, the DMG receives an large number of referrals from the hospital clinics, as well as outside referrals from all over Greece (>5000 samples for laboratory analysis and a further 5000 cases for clinical evaluation and/or counselling annually). Furthermore, the DMG was the first established and also the largest public centre for prenatal diagnosis in Greece, initially for chromosome disorders and soon after for monogenic diseases, the latter also involving the identification of carriers (at-risk couples) for several monogenic diseases common in Greece. The laboratory is well-equipped, with all necessary equipment for basic molecular genetic analyses for research and diagnostic applications, including liquid handling robots to support automated DNA extraction and PCR set-up, as well as infrastructure to perform pulse-field gel electrophoresis, real-time PCR, medium through-put automatic sequencing, and very recently High Resolution Melting Analysis (HRMA). DMG also has all the necessary facilities and equipment for basic cytogenetics, and in addition 3 years ago it acquired an Agilent Technologies Microarray platform, presently used for array Comparative Genome Hybridization (aCGH) applicable for molecular cytogenetic analysis in patients referred with mental retardation (MR) and developmental delay (DD). Concurrent to the major role that the DMG plays in clinical services, it has also made substantial contributions in several areas of applied research in the field of medical genetics. The permanent University staff include 6 faculty members, 6 university post-doctorate Senior Research Scientists, a Clinical Research Associate.