HELIOS at ASCAT Conference 2024: Advancing Hemoglobinopathy Research Through Collaboration
During the ASCAT Conference 2024, HELIOS held its inaugural scientific meeting on October 3, 2024, titled “Fostering Collaboration and Harmonisation in Haemoglobinopathy Research and Training through Synergistic Networking,” in London. This milestone event took place during the renowned Annual Sickle Cell and Thalassemia (ASCAT) Congress, a three-day gathering from October 2-5 at the ETC Venue. […]
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 […]