Elucidating CHD in Down Syndrome with Cardiac Organoids and 3D Genome Architecture

The study aims to investigate the molecular mechanisms of Down syndrome-associated congenital heart disease (DS-CHD), which affects approximately 50% of individuals with Down syndrome (DS) or Trisomy 21 (T21). DS- CHD is a significant contributor to infant morbidity and mortality. To achieve this, the study will utilize 3D- vascularized cardiac organoids, multi-omics analysis, and 3D genome architecture analysis to examine differences in gene expression and developmental pathways between individuals with DS and CHD and those without CHD. The anticipated outcome of this research is to gain new mechanistic insights into the development of DS-CHDs and potentially facilitate the development of novel therapeutic strategies to address cellular abnormalities in the affected heart.