In the laboratoryhospital Of Venus Of Bari the analysis of 388 genes out of 3 thousand newborns Apulian, with the aim of identifying the alterations capable of causing approximately 500 rare diseases. With an ambitious goal: to beat pathologies in time, diagnosing them already in the asymptomatic phase, i.e. before symptoms can develop, and identifying a targeted and personalized therapeutic plan to avoid their effects, improving the prognosis and outcomes of the disease itself.
The Genome Project
All this is foreseen by the project «Puglia Genome», an innovative neonatal extended genetic screening program established by regional law 3 of 30 March 2023 to «enhance and extend early diagnosis activities through exome sequencing and always keep the Apulian healthcare system aligned with scientific and technological progress and regulatory in the field of genomics”, it was explained. The operational phase of the experimental project officially started today, with the arrival of the first group of blood samples, taken from newborns present in the Neonatal Intensive Care Units of Puglia, in the Medical Genetics Laboratory of the «Di Venere» Hospital in Bari, the pole of excellence identified as the reference center for the entire research program. To welcome the precious “cargo” were Dr. Mattia Gentile, director of the Medical Genetics Laboratory, the president of the Puglia Region, Michele Emiliano, the first signatory of the law, Fabiano Amati, and the acting general director of ASL Bari, Luigi Fruscio, together to the team of 18 professionals including doctors, biologists, nurses and laboratory technicians. The project is based on double evidence: 72% of rare diseases are of genetic origin and up to 88% have a pediatric onset. Hence the very important role of genetic tests in diagnosis and treatment.
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