[ad_1]
Fondazione Cariplo has donated 1 million euros to the new “Lampo digene” project promoted by Fondazione Buzzi, which has been committed to supporting the “Vittore Buzzi” Children’s Hospital in Milan.
The goal of this “new journey” proposed by the Buzzi Foundation together with the management of Asst Fatebenefratelli Sacco is to support the Buzzi’s Functional Genomics Center for the diagnosis of rare genetic diseases, which, thanks to the donation, now has access to a method capable of quickly sequencing the entire genome of a child and analyzing the pathological variants at the root of their specific pathology.
The Buzzi Foundation recalls that there are an estimated two million patients with rare diseases in Italy, 70% of whom are children. He explains that the mission of the Buzzi Center for Functional Genomics is to improve the diagnostic process of rare genetic pathologies, which, for some diseases, begins with a newborn screening program at the hospital in Via Castelvetro in Lombardy. Newborn screening allows the identification of 53 treatable genetic conditions within a few hours after birth. However, until now, newborns who tested positive in the first level of screening were forced to migrate to other hospitals, some outside the region or even abroad, in order to obtain a genetic diagnosis, before returning to Buzzi for diagnosis, treatment and therapy. Today, thanks to the purchase of new machines, Buzzi has set up a cutting-edge technological platform for diagnostics and research: library preparation machines, latest generation sequencers, structures for bioinformatics analysis.
“An ambitious project for the early diagnosis of pediatric rare diseases has been launched at the Buzzi Hospital, thanks to a donation from the Cariplo Foundation, which will allow us to complete the newborn screening process with genetic analysis in this hospital, which is already a collection point for newborn screening for the entire Lombardy Region – having screening, diagnosis, treatment and care in just one place”, says Cristina Cereda, Director of Newborn Screening and Metabolic Diseases at the Buzzi Hospital. This project will be a fundamental step forward in obtaining the complete sequence of a child’s genome and the analysis of the variants that cause “his” specific disease.
The Buzzi Foundation lists many advantages: “Completing the diagnostic process of the Buzzi Children’s Hospital Newborn Screening Program with molecular diagnostics, shortening the time to diagnosis and allowing newborns to receive treatment more quickly; Rapid genetic diagnosis of rare genetic diseases in children and pediatrics for personalized medicine; Increased probability of paving the way for new promising molecular therapies; Increased understanding of the mechanisms of complex genetic diseases”.
[ad_2]
Source link
