Dr. Coralea Stephanou is an Associate Scientist in the Molecular Genetics Thalassaemia Department and Associate Faculty at the Cyprus Institute of Neurology and Genetics (CING). She holds a BSc in Biology (Imperial College London), an MSc in Genetics of Human Disease (UCL), and a PhD in Genetics and Molecular Medicine (King’s College London), with doctoral research in β-thalassaemia gene therapy conducted at CING.
Her research focuses on thalassaemia and other hemoglobinopathies, including genomics, variant interpretation, genetic modifiers, and biomarkers. She is a biocurator for the ITHANET portal and a biocurator trainer for the ClinGen Hemoglobinopathy Variant Curation Expert Panel. She co-chairs the INHERENT Genotyping Working Group and the HELIOS COST Action CA22119 Molecular Research and Diagnosis Working Group, and contributes to the Cyprus Hemoglobinopathy Patient Registry and the HemaFAIR project on patient-reported outcome measures.