Little Camilla is four years old and suffers from a genetic disease unique in the world. Doctors were unable to comment on it and therefore to provide effective treatment that seriously counteracted the disease. Until the clinical case has reached a team of researchers from all over Italy. Scientists used genetic screening and editing techniques to develop a tailor-made treatment for Camilla.

When Camilla was born in 2015, neonatal screening immediately made it possible to diagnose cystic fibrosis. Unlike other children, however, Camilla showed an unprecedented and difficult genetic profile to decipher. This foreshadowed a sad future for the girl, who needed ad hoc treatment that did not exist. The turning point came after a television appearance by the researcher Luis Galietta, from the Telethon Institute. Man has been working on cystic fibrosis for over twenty years and is one of the great experts in the field.

The girl's parents contacted the researcher and asked for help for her daughter. He immediately set up a multidisciplinary task force to study Camilla's mutations. The researchers found that one of Camilla's mutations makes her insensitive to the drugs used usually. They then contacted the Italian Medicines Agency to request the administration of a different drug, usually used for other diseases. AIFA has authorized the treatment for six months, after which it will evaluate whether to continue.

Source: repubblica.it