The Garg Laboratory focuses on identifying the genetic contributors to congenital heart disease, the most common type of birth defect in humans, and defining the mechanisms by which genetic abnormalities disrupt cardiac developmental pathways to cause congenital cardiac malformations in infants.
Specifically, we had previously identified familial cases of congenital heart disease and used traditional linkage approaches to discover novel genetic etiologies for cardiac septation defects and aortic valve malformations in humans. We have proceeded to study how these genes and specific mutations disrupt normal heart development and gene function using cell-based and murine models. By using this approach, we are actively investigating the role of Notch signaling in aortic valve development, aortic valve calcification and ascending aortic aneurysms. In addition, we have expanded our research to better understand how environmental factors, specifically maternal diabetes, affect cardiac developmental pathways in our efforts to define the role of gene-environment interactions in congenital heart disease.
Lastly, we continue our human genetic studies to uncover novel genetic etiologies for congenital heart defects. We continue to recruit patients and families with congenital heart defects for these studies (ClinicalTrials.gov - NCT01192048). DNA is analyzed using state-of-the-art genetic technologies including next-generation exome and whole genome sequencing with the goal of discovering additional genetic etiologies for congenital heart disease that can modeled using the approaches described above.