PHENOTYPIC RESCUE OF THE DIGEORGE SYNDROME PHENOTYPE IN MOUSE MODELS

The aim of the research

Main researcher ANTONIO BALDINI

During the past two years of Telethon-funded research, we have discovered drugs and genetic approaches that can significantly improve the "phenotype" or clinical presentation of the mouse model of the 22q11.

2DS/DiGeorge syndrome. A genetic disease estimated to affect 1:4000 live births. In this study we will take this project to the next level, which is to optimize those drug treatments and measure their efficacy on a broader range of symptoms and also at a molecular level. These studies should also allow us to refine the target of drug therapy in the mouse model and possibly develop additional, more specific drugs.

Scientific publications

2015 PLOS ONE
TBX1 Represses Vegfr2 Gene Expression and Enhances the Cardiac Fate of VEGFR2+Cells
Lania, G; Ferrentino, R; Baldini, ACites: 1 (*)