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La Repubblica: Gene Editing Cured Two Siblings With Thalassaemia In Italy

Erika and Emanuele, 19 and 23 years old, were cured with „a very precise DNA correction and without the rare side effects of the previous technique, gene therapy“, explained Professor Franco Locatelli at the Italian newspaper La Repubblica. The method was developed by biochemists Emmanuelle Charpentier and Jennifer Doudna, winners of the 2020 Nobel Prize in Chemistry.


Cured of thalassemia, thanks to gene editing. According to a recent news report published in the Italian newspaper La Repubblica, Erika and Emanuele Guarini, two siblings from Pistoia, Tuscany, aged 19 and 23, were the first patients in Italy to undergo, between November 2020 and August 2021, an experimental bone marrow transplantation technique. It is about „correcting the DNA with great precision and without the rare side effects of the previous technique, gene therapy“ explained Professor Franco Locatelli, Head of the Department of Paediatric Haematology and Oncology, IRCCS Ospedale Bambino Gesù, Rome.

The method was developed by Emmanuelle Charpentier and Jennifer Doudna, two biochemists who were awarded the Nobel Prize in Chemistry last year.

„All, these years, I have been living with the sense of guilt for having passed them that wrong gene, instead of giving them the best, as all parents would like to do“, explained Erika and Emanuele’s mother, Rosa Ilardo, to La Repubblica. Then came the call from Dr. Mattia Algeri, who announced that there was room for her children in the clinical trial, after five years of waiting. The first medical tests after the treatment went well and now Erika and Emanuele, who have been giving each other courage along the way, can live a perfectly normal life. Previously, they were forced to receive blood transfusions every 15-20 days. Due to the condition, Erika also underwent the removal of her gallbladder and Emanuele of his spleen.

Gene editing involves the use of CRISPR technology and works as a sort of „cut and paste“ of DNA, without the viral vectors used in gene therapy. The Bambino Gesù Hospital was the first facility to apply this technology in Italy for the treatment of thalassaemia and sickle cell anaemia.

Professor Franco Locatelli with Emanuele and Erika

So far, 10 treatments have been performed, out of the 13 planned for patients enrolled in the first phase of the trial developed by companies Vertex Pharmaceuticals and Crispr Therapeutics. „What we achieve is practically a return to childhood – clarified Locatelli. After birth, a gene called BCL11A deactivates the so-called fetal haemoglobin, which is normally replaced by two other forms of haemoglobin when we are born. By inactivating this gene, we are able to restore fetal haemoglobin production, effectively correcting thalassaemia”.

Crispr should also involve lower costs than gene therapy, but this is not the only advantage of the new method; „With the previous technique we had a bad experience’’, said the professor. ‘’The manufacturing company has decided to stop marketing the gene therapy for thalassaemia in Europe“.

The alternative to treat thalassemia was with a bone marrow transplant from a donor, but only if 100% compatible. In that case, however, the surgery „is generally not performed after the age of 14 and has a low risk of mortality associated with the procedure, around 3-5%„, explained Locatelli. Genome editing, on the other hand, overcomes these limitations.

„For everyone, 2020 was the year of Covid-19’’, said their mother. ‘’For them, it was the year of rebirth.“


Source: Il Fatto Quotidiano

Photos: La Repubblica

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