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Thalassemia, gene causing the most severe form corrected in Ferrara

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Correct, in Ferrara, the gene that causes the most severe and widespread form of thalassemia in the Mediterranean area. The result was achieved with the genetic ‘cut and sew’ technique by the research team of the University of Ferrara, led by Professor Alessia Finotti of the Department of Life Sciences and Biotechnology, who for the first time managed to repair the genetic mutation responsible for the most common and severe form of β-thalassemia in our area. The team made use of the innovative Crispr-Cas9 genetic engineering technique, which allows a specific DNA sequence to be corrected. “With the Crispr-Cas9 technique – explains Finotti – what is called genome editing is carried out: specific engineered proteins cut the target gene exactly in the point where the error is present. The DNA is then corrected thanks to the natural repair mechanisms. of the cell and the addition of some molecules that provide the correct sequence “. The experiments led to an excellent level of DNA correction and no unscheduled modifications occurred in other areas of the genome outside the region of interest. “We evaluated the goodness of our results by analyzing the corrected DNA with different techniques. Thus we demonstrated the presence of the corrected gene in the cells, capable of producing a normal amount of hemoglobin”, explains Lucia Carmela Cosenza, first author of the study and principal architect experiments. The surgery was performed in a test tube on red blood cell precursor cell samples obtained from eight thalassemia patients with the most severe form of the disease. The research also benefited from a biobank produced together with the DHT Thalassemia of the Arcispedale S. Anna in Ferrara. “The study is a first step towards a therapeutic application – underlines Finotti – which could be obtained by combining this approach with others. strategies that the group is validating. Furthermore, it will be necessary to work on the protocol to translate what is an ‘in vitro’ result into an application of clinical relevance “.

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