Cresci Lab

Cresci Lab

The focus of our research is the association of genetic variation with clinical outcomes in patients with cardiovascular disease and in the variable response to pharmacologic treatment. We also have an interest in defining the functional mechanism of these genetic associations. The ultimate goal of our research is to promote and advance precision medicine approaches.

HYPERTROPHIC CARDIOMYOPATHY

Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiac disease, with a prevalence of ~1 in 200 individuals. Individuals with HCM have adverse clinical outcomes, including heart failure, arrhythmias, and sudden cardiac death (SCD). It is estimated that, in the U.S., 6 out of 7 (86%) individuals with HCM have not been identified and are unaware of their diagnosis.

We are interested in identifying clinical, molecular, genetic and environmental factors that will allow us to better identify, treat, and improved outcomes in patients with HCM. Toward this goal, we use a “bedside to bench to bedside” approach.

All participants consent to chart abstraction to obtain baseline clinical characteristics, medical history, laboratory results, processes of care, outcomes and follow-up contact. All participants provide blood samples for DNA extraction and plasma samples for biomarker analysis. If a participant has a surgical myectomy performed, this tissue is also collected. This clinical cohort provides the foundation for identifying clinical, molecular and genetic factors that contribute to worse outcomes in patients with HCM.

To test specific factors of interest we perform experiments in our laboratory, or collaborate with other investigators, to assess the effect of the factor (e.g. on structure, physiology, etc) and identify molecular signals of fibrosis and worse remodeling. We then assess whether these molecular signatures are associated with worse outcomes in patients.

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