My laboratory focuses on understanding the genetic basis of congenital heart disease and the molecular pathways regulating normal cardiac development.  We have identified familial cases of congenital heart disease and used traditional linkage studies to discover novel genetic etiologies of human congenital cardiac malformations.  We are interesting in understanding how these mutations disrupt normal cardiac development and utilize mouse models to gain insight into the molecular basis of cardiac malformations.  Specifically, we have identified that mutations in GATA4 and NOTCH1 are associated with human cardiac septal defects and aortic valve disease, respectively.  We are analyzing mice with loss of function alleles for these genes to understand the target genes that mediate the actions of these developmental regulators.  Lastly, we continue our efforts to identify novel genetic etiologies for congenital heart disease by using modern genetic approaches.

CV

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