Genetic factors play an important, increasingly recognized role in the development and progression of cardiovascular disease. The objective of our research program is to identify mutations in genes that cause or confer susceptibility to mechanical dysfunction, electrical instability, and improper growth of the heart. Our molecular genetic studies focus on three heritable disorders in humans:
- Idiopathic dilated cardiomyopathy — the most common disease in patients undergoing cardiac transplantation.
- Atrial fibrillation — the most common sustained arrhythmia, reaching epidemic proportions in the elderly.
- Hypoplastic left heart syndrome — the most lethal form of congenital heart disease in newborns.
Experimental strategies include genetic linkage analysis to map the genomic location of novel disease genes in familial cases, whole exome and genome sequencing, and hypothesis-based mutational analyses of candidate genes.
These investigations utilize technologically advanced, automated systems for high throughput DNA analysis and capitalize on genomic information derived from the Human Genome Project.
The long-term objective of our research is to gain new insights into molecular mechanisms for congestive heart failure, arrhythmias, and cardiac malformation; and apply this knowledge to improve diagnosis, treatment and prevention of heart disease.