2023-12-14 14:32:02
by Chiara Bidoli
A new project in support of the Functional Genomics Center for the diagnosis of Rare Genetic Diseases at the «Vittore Buzzi» Children’s Hospital of Milan
The «Lampo di Gene» project was inaugurated at the «Vittore Buzzi» Children’s Hospital in Milan in support of the Functional Genomics Center for the diagnosis of Rare Genetic Diseases. Supporting the Buzzi Foundation in this new important milestone is the Cariplo Foundation with the decisive contribution of 1 million euros which has made it possible to enrich the Functional Genomics Center with cutting-edge instruments that will allow the entire genome of children to be rapidly sequenced and analyze the pathological variants responsible for diseases.
It is estimated that in Italy there are around 2 million rare disease patients, of which 70% are children. «With the donation from the Cariplo Foundation, an ambitious project for the early diagnosis of pediatric Rare Diseases is underway at the Buzzi Hospital which will allow us to complete, with genetic analysis, the Neonatal Screening process of the Hospital, already a collection point for all of Lombardy. In just one place you will be able to get everything 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. The fundamental point will be to be able to give a name to the pathology, but also to reduce diagnosis times and costs”, explains Cristina Cereda, director of Newborn Screening and Metabolic Diseases at Buzzi Hospital.
The commitment of the Cariplo Foundation
«The future is determined from an early age. It applies to people born in difficult contexts, for whom poverty is often a destiny, and it applies to those who experience illnesses or health problems. In both cases, with timely interventions the adverse path can be counteracted. Buzzi hospital has always done a lot for children. Now he adds an important piece. Technology allows us to carry out in-depth analyzes even on rare diseases, which often no one deals with, either in the prevention or treatment phase. The most fragile, the most isolated, those with fewer opportunities end up having even more difficulties. Buzzi puts families of children affected by rare diseases on the same level: our thanks go to them”, comments Giovanni Azzone, president of the Cariplo Foundation.
What is newborn screening
It is the largest neonatal prevention program which allows, within a few hours of birth, the identification of treatable genetic pathologies (in Lombardy 53). Newborn screening is carried out by taking a few drops of blood from the heel of the newborn between 48 and 72 hours of life. The blood sample is then sent to a reference laboratory, where the concentration of substances (metabolites) in the blood is measured, the alteration of which indicates the presence of specific diseases. Today, thanks to the acquisition of new machinery, a cutting-edge technological platform for diagnosis and research has been established at Buzzi, which allows us not to move to other hospitals, but concentrate diagnosis and treatment in a single structure.
In fact, the platform will allow, in a short time, to obtain the entire sequence of the child’s genome and the analysis of the pathological variants responsible for “his” specific disease. The advantages are many and will allow personalized and targeted treatments to be set up for each patient, representing an unprecedented turning point in the treatment of rare genetic diseases.
In particular, thanks to the new instruments, it will be possible:
• Completion of the diagnostic process of the Newborn Screening Program at the Buzzi Children’s Hospital with molecular diagnosis, which will shorten diagnostic times
• 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
•Increasing knowledge on the mechanisms of complex hereditary diseases.
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December 14, 2023 (modified December 14, 2023 | 1.31 pm)
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