Home Department: Biology and Comparative Studies in Race & Ethnicity
Mentor: Casey Gifford (Pediatrics – Cardiology)

“Understanding the Role of NKX2-5 in Congenital Heart Disease”

The NK2 homeobox 5 (NKX2-5) gene encodes a transcription factor involved in heart formation and development. The goal is to learn the extent to which left ventricular noncompaction (LVNC) is dependent on the NKX2-5 variant modifier, that alters the protein’s phenotypic function. The Gifford lab and Ximena will examine the cardioid differentiation outcomes of three LVNC related human induced pluripotent stem cell (hiPSC) lines: unaffected, asymptomatic LVNC, and childhood-onset LVCN. When evaluating the outcome of these differentiations, they will focus on the cavity formation and gene expression results to gain a better understanding of the phenotypic differences between the hiPSC lines and identify the cell types involved in LVNC. Then, they will take these results and compare them to the cardioid differentiation outcome of a corrected NKX2-5 hiPSC line. Results will allow us to understand how NKX2-5 functions as a modifier of congenital heart.