Cyprus research centre opens doors as scientists hail thalassaemia breakthrough
A major advance in the treatment of beta-thalassaemia and the official opening of the largest development project in the history of the Cyprus Institute of Neurology and Genetics (CING) mark a crucial week for medical research in Cyprus.
Researchers at CING on Friday unveiled a novel gene-editing strategy that could transform care for patients with beta-thalassaemia, a common inherited blood disorder in Cyprus, according to a study led by researcher Nicoletta Papaioannou, formerly of the Department of Genetic Haematological Diseases and Thalassaemia at CING.
The study, published in the international journal Genome Biology, demonstrates that duplex base editing, a dual base-editing technique, can induce a therapeutic increase in foetal haemoglobin (HbF) while preserving high levels of genomic integrity.
Beta-thalassaemia, also known as Mediterranean anaemia, results from mutations in the HBB gene, which is responsible for producing beta-globin. Dysfunction of this gene leads to lifelong anaemia and necessitates regular blood transfusions.
The therapy focuses on raising gamma-globin, a key component of HbF, which naturally decreases after birth through haemoglobin switching. Targeting the genes that regulate this process offers a promising therapeutic pathway.
In the study titled Functional correction and genome integrity with duplex base editing of beta-thalassaemic hematopoietic stem cells, CING researchers, in collaboration with thalassaemia clinics in Nicosia and Larnaca and the University Medical Centre Freiburg in Germany, applied the base-editing technology to patient-derived haematopoietic stem cells.
The team developed a 2×BE approach, simultaneously targeting the erythroid enhancer of BCL11A and the promoter of the HBG gene. This method was compared with single-gene targeting and the approved CASGEVY™ therapy, based on CRISPR/Cas9 technology.
Results showed HbF expression reaching 56.68 per cent, a 6.4-fold increase over unedited cells, surpassing the therapeutic threshold of 30 per cent.
Genome-wide safety assessments indicated that, unlike double-strand break technologies, duplex base editing presents a significantly reduced risk of chromosomal rearrangements, with no observed gene misplacements between BCL11A and HBG.
The study positions duplex base editing as an effective and safe therapeutic strategy for beta-thalassaemia, with potential applications in other genetic disorders.
Moreover, the researchers expressed gratitude to their collaborators, funding bodies, and the patients who contributed to the study.
Earlier this week, CING also marked a new chapter in its development with the official delivery of its new building, the largest in the Institute’s history, signalling a new era for research and innovation in Cyprus.
Funded by the European Investment Bank and the Republic of Cyprus, the facility represents the first project in which research funding was directly tied to infrastructure, a significant step for the country’s scientific advancement.
Spanning approximately 11,000 square metres, the building will house new research teams in cutting-edge health fields, providing modern laboratories, advanced equipment, and teaching facilities.
The design meets international technological standards, ensuring Cyprus remains competitive in biomedical research.
“The official delivery of the new Cyprus Institute of Neurology and Genetics building fills us with immense joy and pride,” said Leonidas Fylaktou, General Executive Director and Medical Director of CING.
“This landmark project creates the conditions for even greater progress in research, ultimately benefiting patients and all citizens,” he added.
The completion of the building strengthens CING‘s role as a Centre of Excellence and a key pillar of biomedical research and innovation in Cyprus and the wider region.