Rare diseases, 1 million euros for the new «Gene Flash» project

Fondazione Cariplo contributes 1 million euros to the new “Lampo di gene” project promoted by Fondazione Buzzi, which has always been committed to supporting the “Vittore Buzzi” children’s hospital in Milan.

The objective of this “new journey”, presented by the Buzzi Foundation together with the management of the Asst Fatebenefratelli Sacco, is to support the Functional Genomics Center for the diagnosis of rare genetic diseases at Buzzi, which thanks to the donation can now have access to cutting edge to rapidly sequence the entire genome of children and analyze the pathological variants at the origin of their specific pathologies.

There are an estimated 2 million rare disease patients in Italy, 70% of whom are children, recalls the Buzzi Foundation. The mission of the Buzzi Functional Genomics Center – he explains – is to improve the diagnostic process of rare genetic pathologies, which for some diseases begins with the neonatal screening program in Lombardy, right at the hospital in via Castelvetro. Neonatal screening allows, within a few hours of birth, the identification of 53 treatable genetic pathologies. Until now, however, the newborn who tested positive at the first level of screening was forced, in order to obtain the genetic diagnosis, to migrate to other hospitals, some outside the region or even abroad, being able to return only afterwards to Buzzi for treatment and treatment. treatment. Today, thanks to the acquisition of new machinery, a cutting-edge technological platform for diagnosis and research has been established at Buzzi: library preparers, latest generation sequencers, bioinformatics analysis structure.

“With the donation from the Cariplo Foundation, an ambitious project for the early diagnosis of pediatric Rare Diseases begins at the Buzzi Hospital which will allow us to complete, with genetic analysis, the process of Newborn Screening at the Hospital, already a collection point for all Lombardy – says Cristina Cereda, director of Newborn Screening and Metabolic Diseases at Buzzi Hospital – In just one place you will be able to get from screening, to diagnosis, up to treatment and care. The project will allow a fundamental step forward to obtain the entire sequence of the child’s genome and the analysis of the variants responsible for “his” specific disease”.

There are many advantages, the Buzzi Foundation lists: «Completion of the diagnostic process of the newborn screening program at the Buzzi children’s hospital with molecular diagnosis, shortening diagnostic times so that newborns can access therapy more quickly; rapid genetic diagnosis for rare genetic diseases of childhood and pediatric age, for personalized medicine; increasing the possibility of paving the way for new promising molecular therapies; increase in knowledge about the mechanisms of complex hereditary diseases”.