Key activities in the Molecular Genetics Thalassaemia Department include (i) translational research for the discovery of biomarkers and disease modifiers (e.g. Papasavva et al. 2021, Kountouris et al. 2021), (ii) population-wide diagnostics based on advanced PCR and short-read massive parallel sequencing (MPS/NGS) technologies (e.g. Byrou et al. 2018, Constantinou et al. 2022), and preimplantation genetic testing (PGT/PGD) for a range of genetic disorders, (iii) bioinformatic development of databases (e.g. ITHANET), patient registries (e.g. ENROL), variant curation (e.g. Kountouris et al. 2022) and epidemiology (e.g. Kountouris et al. 2021), (vi) education and training in research and diagnostic techniques and concepts of rare anaemias at postgraduate level, and (v) gene editing and advanced therapy development for rare anaemias and in particular β-thalassaemia (see e.g. Koniali et al. 2021, Lederer et al. 2022). As to the latter and in addition to the development of disease models, his research group in the department focuses on three different approaches: 

1. Mutation-specific RNAi-supplementation of gene addition. Based on lentiviral expression vectors for permanent gene addition in cell lines and in primary haematopoietic stem and progenitor cells. See e.g. Patsali et al. 2018
2. Genome editing of disease modifiers. Based on designer nucleases and double-strand-break-independent editors for the removal or modification of γ-globin repressors and associated recognition elements, to activate the β-globin-like γ-globin gene. See e.g. Loucari et al. 2018, Patsali et al. 2019a, Papasavva et al. 2019, Papasavva et al. 2022, Papaioannou et al. 2023
3. Homology-directed-repair–independent gene repair. Based on designer nucleases (CRISPR/Cas, TALEN) and base editors for the removal of aberrant regulatory elements and restoration of normal gene expression. See e.g. Patsali et al. 2019b, Patsali et al. 2019c