Potential new treatment for thalassemia

A group of scientists of the Molecular Genetics Thalassaemia Department of the Institute of Neurology and Genetics (CING) is developing a new method for the treatment of Mediterranean anaemia (beta thalassemia) using molecular genetic tools, according to a statement released on Friday.

According to the statement, the institute’s gene therapy and gene modification research unit has approached the most frequent and serious form of the disease in Cyprus with a new method, the effectiveness of which has been demonstrated experimentally on patient cells.

The team has proven in laboratory that this method has achieved a significant improvement in the underlying disease parameters and has exceeded in effectiveness the gene therapy approach currently under clinical trial.

It has also shown that the combination of the two methods improves the effects of the treatment compared with the application of each method individually.

“These results pave the way for monotherapy or combination therapy, specialised in the most frequent form of beta thalassemia in Cyprus,” the statement said.

It added that the Molecular Genetics Thalassaemia Department has recently secured funding from the Cyprus Research Promotion Foundation to further improve the treatment method.

Patients with beta thalassemia, it said, depend on regular blood transfusions and pharmaceutical chelation, while bone marrow transplantation, the only radical treatment for the disease, is only available for a small percentage of patients and comes with serious complications.

Researchers are developing new radical therapies using molecular genetics tools.

“So far, clinical studies for this treatment are based on the addition of a normal beta globin gene to the patient’s stem cells. Due to technical constraints, this approach does not fully cure patients with severe forms of the disease, such as the one caused by the most common for the Cypriot population mutation of beta thalassemia,” the statement said

The CING team is trying to develop optimised and more personalised treatment approaches, especially for this mutation.

“One of the approaches developed in the laboratory is based on recognition and suppression of the transcription product (RNA) produced by the defective beta globin gene. Targeting defective RNA prevents its pathological action thereby allowing for increased production of normal beta globin,” it said.

According to data from the Cyprus-based Thalassaemia International Federation (TIF), around 600 people in Cyprus suffer from thalassaemia and 16 per cent of Cypriots are carriers.

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