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Aurora magazine

Make 350 rare disease diagnoses thanks to "Vite Coraggiose"

The campaign Vite Coraggiose of the Bambino Gesù Foundation is aimed at those who suffer from genetic diseases without a diagnosis. The scientific director Bruno Dallapiccola announced the first results of the initiative: 350 diagnoses, about 50% of patients entered the program.

Much of the credit goes to the multidisciplinary clinical approach and to the use of genetic sequencing technologies. The many tools at the disposal of the Infant Jesus also contributed. The hospital has in fact treated about 10,000 patients suffering from rare diseases, especially pediatric diseases. It also houses the Italian headquarters of Orphanet, to date the database for rare diseases par excellence. All these elements have managed to give an answer to those who have been waiting for a long-time diagnosis.

The results obtained in 2 years with Vite Coraggiose are only the last in terms of time. In recent years, the Bambino Gesù researchers have identified 17 new genes related to diseases. In addition, they identified 16 rare diseases and opened a clinic dedicated to those who are still without a diagnosis.

The clinic dedicated to patients without a diagnosis is aimed at patients throughout Italy. Families can interact with doctors for a first remote diagnostic opinion. Any movement will come later and only if necessary. A considerable help for those who have relatives suffering from disabling diseases and that prevent them from moving. If clinical analyzes do not provide an answer, we proceed with genomic analyzes.

Up to now the approach of Vite Coraggiose has allowed to obtain a diagnosis in about 50% of cases. Having an answer is a big step forward from both a psychological and a practical point of view. It allows you to get to know the disease better and to develop increasingly targeted research programs.