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The Garg Laboratory focuses on identifying the genetic contributors to congenital heart defects and dissecting the molecular pathways regulating normal and abnormal cardiac development.
Previously, we identified familial cases of congenital heart disease and used traditional linkage studies to discover novel genetic etiologies for cardiac septation defects and aortic valve malformations. We have proceeded to study how these genes and specific mutations disrupt normal heart development and gene function, respectively. By using these human disease-causing genes as an entry point, we have generated mouse models of human cardiac malformations and will use them to elucidate mechanisms of disease development and study gene-environment interactions.
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 will be analyzed using state-of-the-art genetic technologies including array comparative genome hybridization and next-generation whole exome and genome sequencing with the goal of discovering additional genetic etiologies for congenital heart disease.