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Written by Dr Burak Durmaz, Ege University, Faculty of Medicine, Department of Medical Genetics, Izmir, Turkiye I recently had the opportunity to participate in a Short-Term Scientific Mission (STSM) funded by the COST Action CA22119. My mission took place at National and Kapodistrian University of Athens, St. Sophia Children’s Hospital, Choremeio Research Laboratory – Laboratory of Medical Genetics from June 25th to July 5th, 2024, with the aim of expanding my expertise in preimplantation genetic diagnosis of monogenic disorders, with a specific focus on haemoglobinopathies. During my stay, I engaged in a structured training

Written by Ms Florentia Romanou, Cyprus Institute of Neurology and Genetics, Cyprus Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) involves examining nuclear or mitochondrial DNA pathogenic variants that cause monogenic disorders with autosomal dominant, autosomal recessive, or X-linked transmission patterns. It also includes exclusion testing and Human Leukocyte Antigen (HLA)-typing with or without simultaneous testing for monogenic disorders. PGT-M is a highly established preventive tool, capable of identifying nearly every monogenic disorder, or combination thereof, provided the pathogenic variant is unequivocally diagnosed.   Cyprus ranks among the countries with the highest prevalence of β-thalassaemia carriers