Care tailored to Camilla, a child of four years

IT's CALLED CAMILLA, he is four years old and has a genetic defect that is unique in the world, on which the doctors were not able to give. Until a team of researchers in italy between Naples, Florence and Genoa managed to find a treatment tailored to you. A real case of personalized medicine made in Italy. A unique genetic profile Camilla was born in Florence in 2015, and, thanks to newborn screening, it was possible to instantly diagnose cystic fibrosis. His genetic profile absolutely new does not leave a lot of hope, and for this the doctors have always been very cautious because it was clear that it was necessary to find a treatment ad hoc. But, after seeing him speak during the television Marathon of the Fondazione Telethon to raise awareness and collect funds for scientific research on rare genetic diseases, the parents of Camilla contacted Luis Galietta , a researcher at the Telethon Institute of Genetics and Medicine (Tigem) of naples. The ‘dream team’ Italian Galietta for over twenty years, studied and worked right on cystic fibrosis: “We had to put in a multi-disciplinary task force, which, in addition to us Tigem involved Happy Loved and Giuseppe Castaldo of Ceinge, in Naples, and a group of biochemists of the Gaslini Institute of Genoa, in continuous contact with the clinical trials of Meyer of Florence that follow Camilla, and, in particular, with Vito Terlizzi . Together, we have shown that one of the two mutations of Camilla, the more rare, had effects very different from that in other patients was found to be insensitive to the drugs.” A single letter of the Dna has made a difference as Well, the researchers have discovered that the rare mutation of Camilla responded to the treatment: a single letter, in a different location in the Dna, in fact, had an impact completely different on the CFTR protein and allowed the medicine to restore the function. “To do that, " explains Galietta - we have taken some of the cells of the nasal epithelium of the little girl, to be sure that what has been observed in the laboratory would actually be predictive. The results of this study, which took more than two years of work were published this year on the international scientific journal Human Mutation. The request to Aifa these results have allowed the Center of cystic fibrosis of the Meyer Hospital, where is under the care of Camilla, to demand that the Italian drug Agency (Aifa) the authorisation to administer the drug in “off-label”, or with an indication different from that for which it was authorized. Thanks to the joint work of researchers of the Tigem, of Ceinge and the Gaslini in genoa, the little girl will be able to begin using it for a period of six months, after which you will decide whether to continue or not on the basis of the effects found. “It's a great satisfaction, " concludes Galietta – when the resolution of a scientific problem has an important impact on someone's life, a little girl of only 4 years in this case. This is personalized medicine which comes up more and more, as has been the case even just a few weeks ago on the occasion of the case of the milasen, the drug “designed” to measure the genetic defect that is unique in the world of Mila, a girl american suffering from a rare genetic disease, the Batten”. The marathon Telethon, The marathon Telethon continues on the Rai until tomorrow. Also, tomorrow and Sunday 22 December in more than 3,000 squares in Italy, it will be possible to receive the chocolate Heart of the Fondazione Telethon to support scientific research on rare genetic diseases. Until December 31, you can donate by calling from a landline or by sending an sms to the number supportive 45510.

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