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December 18, 2019The doctors of the Gaslini children's hospital in Genoa reconstructed the heart of a 21-month-old girl from Northern Italy suffering from a serious malformation from birth that in other hospitals had been considered incorrigible. The possibility of a double heart-lung transplant was also rejected. Congenital heart disease was corrected, the girl was discharged with the prospect of a normal life.

A success of personalized medicine all made in Italy, which is coupled with another case of excellence. A multidisciplinary group of Italian researchers between Naples, Florence and Genoa has identified a therapeutic solution that allows treating only one patient in the world: her name is Camilla, a child born in Florence in 2015, and to whom, thanks to newborn screening, she is cystic fibrosis could be diagnosed immediately.

A genetic profile that was completely new to that of Camilla, on which the doctors were unable to pronounce, and for whom it was necessary to find an ad hoc treatment.

But, after seeing him intervene during the Telethon TV Marathon to raise awareness and raise funds for scientific research on rare genetic diseases, Camilla's parents contact Luis Galietta, researcher at the Telethon Institute of Genetics and Medicine (Tigem) in Pozzuoli, who has been studying and working on cystic fibrosis for over twenty years.

"We had to set up - explained Galietta - a true multidisciplinary task force, which in addition to us at Tigem involved Felice Amato and Giuseppe Castaldo del Ceinge of Naples and a group of biochemists from the Gaslini Institute in Genoa, in continuous contact with the Meyer clinicians of Florence who follow Camilla and in particular with Vito Terlizzi ".

"Together we have shown - continues the researcher - that one of the two Camilla mutations, the rarer one, had very different effects from that which in other patients was found to be insensitive to drugs. Fortunately we discovered that Camilla's rare mutation responded to treatment : a single letter, in a different position in the DNA, had in fact an absolutely different impact on the Cftr protein and allowed the drug to restore its function ", explains Galietta.

Thanks to the joint work of researchers from Tigem, Ceinge and Gaslini, the child will be able to start taking a drug created specifically for her case, for a period of six months, after which she will evaluate whether to continue or not based on the effects found.