HELIOS First Scientific Meeting: “Fostering Collaboration and Harmonisation in Haemoglobinopathy Research and Training through Synergistic Networking”
On October 3, 2024, the HELIOS CA22119 COST Action held its inaugural scientific meeting, “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 members […]
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 third Short-Term Scientific Mission: Geospatial modelling framework optimization for forecasting the global hemoglobinopathy burden
Written by Ms Mikaella Kontopoulou, Cyprus Institute of Neurology and Genetics, Cyprus The HELIOS-funded Short-Term Scientific Mission at the WorldPop research group significantly advanced the geospatial modelling framework for forecasting the global burden of hemoglobinopathies. Improved data pre-processing strategies were implemented to address data heterogeneity and ensure that the most reliable data points are used […]
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 […]
HELIOS first Short-Term Scientific Mission for standardising annotation of structural haemoglobinopathies
Written by Ms Maria Xeniphontos, Cyprus Institute of Neurology and Genetics, Cyprus Structural haemoglobinopathies are genetic disorders characterized by abnormalities in the structure of haemoglobin (Hb), the oxygen-carrying protein found in red blood cells. These abnormalities result from pathogenic variants affecting the amino acid sequence of the globin chains causing alterations in the functional […]