The Inherited Cardiomyopathy Program has active research investigations in three core areas:
- Genotype-Phenotype Correlation: the goal of these projects is to advance our understanding of the relationship between putative disease causing mutations and disease expression within and between families. Improved understanding of this relationship is critical to the provision of outstanding clinical care and to development of novel therapies.
- Prevalence and Disease Outcome: because recognition of inherited disease is often limited by practice patterns which are in turn heavily influenced by the urgent demands of caring for sick patients, an important proportion of inherited disease is misdiagnosed. As an example, we discovered that nearly 25% of patients undergoing heart transplant for end stage cardiomyopathy have inherited disease, whereas current recognition of inherited disease in this population is limited to 4% of patients. This research was presented at the International Society of Heart and Lung Transplant in Prague (2012).
- Novel Gene Discovery: collaborating with Dr. Arya Mani and the Yale Department of Genetics, and the National Institutes of Health, we helping families with clear inherited disease uncover the pathogenic gene mutation responsible for their family’s disease. Discoveries in this arena open disease treatment to novel therapeutics and improved prognostication.