HELIOS fourth Short-Term Scientific Mission “Training in Preimplantation Genetic Diagnosis of Monogenic Disorders: A Focus on Haemoglobinopathies”
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 […]
HELIOS second Short-Term Scientific Mission: Long-read-amplicon haplotyping for β-thalassaemia preimplantation genetic testing for couples with no additional family history
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 […]