Sharon Cresci, MD

Sharon-Cresci-MD

Sharon Cresci, MD

Appointments

  • Assistant Professor of Medicine, Cardiovascular Division
  • Genetics Director, Applied Genomics Core Laboratory for TRIUMPH, Washington University School of Medicine

Research interests

The pharmacogenomics of cardiovascular disease.

Association of PPAR-pathway gene polymorphisms with diabetic outcomes in BARI 2D

We are interested in investigating the genetic and pharmacogenetic associations of PPAR-pathway variants in a population with type 2 diabetes and coronary artery disease, the BARI 2D (Bypass Angioplasty Revascularization Investigation 2 Diabetes) cohort. Using a custom designed targeted-genotyping 3K single nucleotide polymorphism (SNP) chip and the extensive clinical data obtained in the prospective randomized BARI 2D trial (including extensive diabetes-related and cardiovascular baseline and follow-up phenotypic data, detailed data on medications and revascularization techniques, and rigorously collected long term clinical outcome data including rates of death, myocardial infarction, stroke, and re-hospitalization) we have been able to answer clinical relevant questions. As an example, we have recently identified a novel genetic variant associated with the extent of coronary artery disease in BARI 2D.

Pharmacogenetic and genetics contributors to post-myocardial infaction outcomes in TRIUMPH

Dr. Cresci’s laboratory serves as the Applied Genomics Core Laboratory for TRIUMPH (Translational Research Investigating Underlying disparities in acute Myocardial infarction Patients’ Health status). The TRIUMPH study is a large, prospective, observational cohort study of of 4,340 consecutive patients with acute myocardial infarction presenting to 24 US hospitals from April, 2005 to December, 2008. This cohort has extensive phenotypic data and is an ideal cohort to investigate pharmacogenetic and genetic contributors to post-myocardial infarction (MI) outcomes.

Understanding phenotypic variability in hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a complex genetic disease with a highly variable phenotypic progression. Occurring in 1 in 500 adults, HCM is caused by nearly 1000 distinct genetic mutations inherited in an autosomal dominant pattern. However, even amongst patients with identical mutations, variable penetrance and disparate clinical manifestations of the disease are observed. The mechanism for this is not well understood. This project is a longitudinal, prospective cohort study of HCM patients and their first-degree blood relatives. Demographic, echocardiographic, cardiac catheterization, surgical, and other clinical data are collected at defined time points and DNA is available for genetic analyses. One goal of this project is to define genetic predictors of severity and progression of HCM.

Publications

View Sharon Cresci’s publications on PubMed.gov »

Contact

Phone: 314-362-5363 (Office) | 314-362-8921 or 314-362-9926 (Lab)
Fax: 314-747-8560
Email: scresci@wustl.edu

View Dr. Cresci’s profile on the Cardiovascular Division’s site »