Description of CVI Expertise

Director, Cardiovascular Genetics Core Laboratory

CVI Program Unit(s):
Myocyte Biology / Heart Failure

CVI Research Description:
We are interested in the identification of genetic and epigenetic determinants of the development and rate of progression of cardiomyopathy. Our primary strategy is a “candidate gene system” approach with a focus upon signaling pathways that would be described as compensatory. We have a particular interest in the natriuretic peptide system, heat shock proteins and the metalloproteinases/tissue inhibitors of metalloproteinases.

We explore hypotheses within the Penn Heart Failure Cohort - a large longitudinal cohort study of phenotypically well-characterized patients with advanced cardiomyopathy.

We are also interested in exploring the role of epigenetics in heart failure by examining the importance of tissue (cardiac) specific methylation patterns to the natural history of cardiomyopathy. We utilize the Sequenom Mass Array System to assist our genomic and epigenomic research efforts.