Primary Cilia Act as Essential Regulators of Congenital Heart Defects

Lay Summary: The overarching goal of our research is to understand a fundamental subcellular target that is integral to a number of common congenital defects. For this research proposal, we shall employ sophisticated genetic techniques to manipulate the primary cilia in embryonic mice to model congenital heart defects in humans. We are working toward understanding the process by which the primary cilium contributes to normal heart chamber septal development, and how its absence/malfunction leads to common congenital heart defects.
Specifically, we plan to eliminate primary cilia from specific subsets of progenitor cells crucial for
populating and modeling the embryonic heart, and assess the relative contribution of each cell type.
The long-term perspective on this research is that we would like to ultimately develop intrauterine
therapies that can enhance or replace the defective ciliary signaling. This may allow us to eliminate
some of the most common congenital defects seen in newborns, saving lives and enhancing quality of
life for thousands.