Phenotypic rescue of the DiGeorge syndrome phenotype in mouse models

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.