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Gianni Mastella died, he discovered cystic fibrosis in Italy – Medicine

– Professor Gianni Mastella, scientific director and co-founder of the Cystic Fibrosis Research Foundation, father and pioneer of Italian research in the fight against the most widespread of serious genetic diseases, died in Verona.
A luminary for the development and scientific knowledge of cystic fibrosis and a clinical reference point for patients, relatives, colleagues and scientific researchers, he has dealt with the study on fibrosis for over 60 years.

Graduated in medicine at the University of Padua, with a specialization in pediatrics and skills in pulmonary and gastrointestinal diseases, in 1957 he was the first to diagnose a case of cystic fibrosis in Italy, at the time identified with the name of “mucoviscidosis” and almost unknown . In 1967 in Verona, he established and directed the first treatment center for Cystic Fibrosis in Italy at the current Integrated University Hospital, which will assume an increasingly important role at national and international level, aware that cystic fibrosis is a disease very complex, with severe symptoms affecting many organs, little known and difficult to diagnose, and which for this very reason has remained orphaned of research over the centuries.

In Verona at the beginning of the 1980s, on an experimental basis, the foundations will be laid for the first tests to carry out neonatal screening of cystic fibrosis. Ten years later, at the stimulus of Mastella, the whole of Veneto will become the lead region of the pilot project, which will put Italy almost 20 years ahead of the United States. The Center has a laboratory dedicated to research in the field of molecular pathology, directed in the early years by prof. Giorgio Berton, current president of the Frfc Scientific Committee. After the discovery in 1989 of the Cftr gene, cause of the disease, and the development of a genetic test to identify its mutations, pilot screening projects of the carrier are carried out among the relatives of the patient and the first prenatal diagnoses are carried out for couples with high risk.

In 1993, thanks to his fundamental support, Law 548, known as the Garavaglia Law, came to light, extending the organizational and welfare model tested in Veneto to all Italian regions. In 1997, together with entrepreneurs Vittoriano Faganelli and Matteo Marzotto and Michele Romano, Mastella established the Foundation for Research on Cystic Fibrosis (Frcf) in the city, which became the first national body to promote and finance scientific studies on the most widespread serious genetic disease, today recognized by the Ministry of Education as the promoter of FC Research (ANSA).

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