Blog
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 members showcased their research to peers and the broader ASCAT audience, sparking lively discussions that allowed members to connect, explore each other’s work, and identify collaborative opportunities. Throughout ASCAT, HELIOS also ran a dedicated booth, drawing significant interest
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 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
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 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
Advancing Care in Hemoglobinopathies: Transcranial Doppler Training in Ulm
On September 18, 2025, the Department of Pediatrics and Adolescent Medicine at the University Medical Center Ulm hosted a specialized training on Transcranial Doppler (TCD)
Inspiring Experience at the COST Academy – Young Researcher Training (2–3 September 2025)
We are delighted to share that our Grant Holder Manager. Dr Sotiroula Chatzimatthaiou attended the COST Academy – Young Researcher Training, held on 2–3 September
Short-Term Scientific Mission on the Ethical and Regulatory Dimensions of Artificial Intelligence in Rare Haemoglobinopathies
Written by Dr Coralea Stephanou, The Cyprus Institute of Neurology & Genetics In July 2025, I had the opportunity to carry out a 4-day Short-Term
Reflections on the ESH Conference by Dr Liri Seraj: Advancing Haemoglobinopathy Research Through HELIOS and Collaborative Innovation
This article is written by Dr. Liri Seraj. You can explore more of her insights on haemoglobinopathy research on her blog: hemalily.com. Did you know
HELIOS Mission: Optimizing Geospatial Models for Global Hemoglobinopathy Forecasting
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
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