Molecular Insights into the Role of the Ripply3 Gene in DiGeorge Syndrome and Related Disorders.

This project has been funded thanks to the Joint Call Fondazione Cariplo and Fondazione Telethon 2025.

This project aims at the identification of genes required for the correct development of head, heart, and other structures, which are often affected in rare diseases caused by genetic mutations or that occur for non-genetic causes. In particular, we will focus on a gene, named Ripply3, that has been associated with certain types of heart defects and, when defective in mouse models, causes developmental anomalies similar to those found in DiGeorge syndrome and other birth defects. However, the precise role of Ripply3 is yet to be defined. We will use genetically modified cells, mouse models and genomic approaches to address the role of this gene in interacting with other genes known to cause birth defects. We hypothesize that Ripply3 works together with other disease relevant genes in regulating the architecture of organs, including heart, thymus, parathyroids and great arteries.