Cardiovascular Genetic and Genomic Sciences

Studies in this translational research area include:

  • Basic mechanistic approaches
  • Identification of high-risk groups and genomic predictors
  • Incorporation of genomic tools into daily clinical decision-making 

Genomic Expertise and Biorepositories

Duke's combination of unique biorepositories, expertise, and facilities spread across the university and medical center facilitate studies that are not possible in other settings. These features make Duke a unique place to study and work in cardiovascular genomics.

Interdisciplinary collaborations involve a number of Duke units that offer special expertise in genomics. For more information, see the facilities section below.

Duke University Medical Center (DUMC) maintains unique databases of highly phenotyped individuals with cardiovascular disease in outpatient, inpatient, and perioperative settings, whose clinical data and blood has been collected prospectively over the last six to 10 years. These databases provide rare opportunities to incorporate genomic science into clinical medicine.

Unique features of these databases include:

  • Robust, standardized phenotypes
  • Clinical data
  • Adjudicated events
  • Outcomes of acute cardiovascular events
  • High quality DNA, RNA, and serum samples that can be used for genome-scale molecular analyses

Investigators at the Duke Center for Applied Genomics and Precision Medicine, the Duke Center for Genomics and Computational Biology, and elsewhere on campus are expert in analysis of large multidimensional data sets derived from these samples and in building integrated predictive models that will facilitate the use of genomic information in clinical trials and in clinical practice.


  • CATHGEN (CATHeterization GENetics): Includes data from more than 6,000 highly phenotyped cardiology patients who have undergone cardiac catheterization at DUMC since 2001 and are followed for outcomes
  • EPGEN: A similar database for patients undergoing electrophysiological procedures; implemented in 2006
  • GENECARD (GENetics of Early onset CARdiovascular Disease): Contains data from more than 900 multigenerational families ascertained for early onset CAD
  • PEGASUS (Perioperative GEnetic And Safety Study U.S.): Contains data from some 6,500 highly phenotyped cardiac surgery patients with carefully documented short and long-term outcomes recorded
  • VascGEN (Vascular Genetics): Highly phenotyped vascular patients with either claudication or chronic limb ischemia


  • The Duke Center for Applied Genomics & Precision Medicine, a campus-wide genome institute under the direction of Huntington Willard, PhD, is built around a series of integrated centers that house intellectual and equipment resources and foster genomic research on campus.
  • The Center for Genomic Medicine, headed by Geoffrey S. Ginsburg, MD, PhD, enables genomic discovery and clinical studies in cardiovascular medicine and other fields focused on the translation of genetics and genomics into clinical practice.
  • The Center for Applied Genomics & Technology (CAGT) is a resource and focal point for the development and application of novel approaches for genome analysis. Within CAGT are core facilities for gene expression analysis, high-throughput genotyping, and sample processing.
  • The Duke Center for Human Genetics is an international leader in the study of inherited disorders; its mission is the development of gene-identification projects through partnerships with clinicians and basic scientists. This center provides a wealth of experience toward understanding the genetic determinants of human disease, and has established core resources to enable and support collaborative research programs. Among these resources is the Molecular Genetics Core for high-throughput genotyping.
  • The Sarah W. Stedman Nutrition & Metabolism Center has developed a research-dedicated metabolomics/biomarker laboratory that conducts metabolic, endocrine, inflammatory marker, and physiologic profiling of cultured cells, animal models, and human subjects. This includes a research-dedicated, mass-spectrometry-based metabolic profiling core facility.
  • The UNC-Duke Michael Hooker Proteomics Center provides researchers with a state-of-the-art facility to identify proteins and to assist in the characterization of protein modification and differential expression from complex biological specimens. This shared facility is a joint operation of the University of North Carolina at Chapel Hill (UNC), Duke University, and Duke University Medical Center.
  • Biosite, Inc. (now under Alere) is a research-based diagnostics company based in San Diego. Biosite employs proprietary technologies for antibody development and engineering, immunoassay development, sample handling, preparation, and analysis for the targeted and quantitative analysis of protein analytes from complex biological specimens. The company has ongoing collaborations with Duke for development and execution of high-throughput protein assays.