(ANSA) – BARI, 06 MAR – A research on congenital malformations of the limbs in which the ‘Medical genetics’ of the ASL Bari participated was published in the scientific journal Nature. The study, which lasted two years, saw the structure directed by Dr. Mattia Gentile collaborates with some of the best known genetic research laboratories in the world including the ‘Max Planck Institute for Molecular Genetics’ in Berlin, the ‘New York University School of Medicine’ and research institutes of the universities of Oxford and Pavia. “The work – explains the ASL – marks an important step forward towards understanding the genetic mechanisms involved in congenital malformations of the limbs. We started from the analysis of a rare disease called ‘Split-Hand/Foot Malformation type 3’, in a family from Campania studied in the genetics laboratory of the ‘Di Venere’ hospital in Bari”.
The team, coordinated by Mattia Gentile examined the patients, interpreted the clinical data and provided the clinical information, together with biological samples. The identification of a genetic anomaly in the family has made it possible to start a series of studies. “It has been demonstrated – inform the ASL – that the malformation is the consequence of a combinatorial effect on the altered gene expression in the developing limb”. The results also reveal “important news on the molecular mechanism underlying the disease”. “It is an important demonstration – comments Gentile – of how the virtuous circuit of interaction between highly specialized genetic diagnostics strongly developed in the ASL Bari and in the Puglia Region and the world of research can have a great impact in the study of rare diseases”. (HANDLE).
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