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Advances in Genetics, Proteomics, and Metabolomics

Cardiovascular Genomics, Personalized Medicine, and the National Heart, Lung, and Blood Institute

Part I: The Beginning of an Era

Christopher J. O'Donnell, MD, MPH and Elizabeth G. Nabel, MD

From the Center for Population Studies in the Division of Intramural Research (C.J.O.), Framingham Heart Study (C.J.O.), and Office of the Director, National Heart, Lung, and Blood Institute (C.J.O., E.G.N.), Bethesda, Md.

Correspondence to Christopher J. O'Donnell, MD, MPH, National Heart, Lung, and Blood Institute, Senior Advisor to the Director for Genome Research, Associate Director, NHLBI’s Framingham Heart Study, 71 Mount Wayte Ave, #2, Framingham, MA 01702. E-mail codonnell@nih.gov

Key Words: genetics • genomic studies

An extract of the first 250 words of the full text is provided, because this article has no abstract.

	Introduction

 
The inaugural issue of Circulation: Cardiovascular Genetics arrives at a remarkable time in the history of genetic research and cardiovascular medicine. Despite tremendous progress in knowledge gained, cardiovascular disease (CVD) remains the leading cause of death in the United States,¹ and it has overcome infectious diseases as the leading cause of death worldwide.² In addition, rates of CVD remain higher in black and Hispanic populations in the United States.¹ The recent Strategic Plan of the National Heart, Lung, and Blood Institute (NHLBI) emphasizes research areas to fill the significant knowledge gaps needed to improve the diagnosis, treatment, and control of known risk factors and clinically apparent disease. Simultaneously, the NHLBI Strategic Plan recognizes a tremendous opportunity that is available for use of genetic and genomic research to generate new knowledge that might reduce the morbidity and mortality from CVD in US populations.³ Public availability of vast amounts of detailed sequence information about the human genome, completed sequence data on dozens of other animal genomes, and private sector development of high-throughput genetic technologies has transformed in a few short years the conduct of cardiovascular genetics and genomics research from a primary focus on mendelian disorders to a current emphasis on genome-wide association studies (GWAS; Figure 1). In this review, we describe the rationale for the current emphasis on large-scale genomic studies, summarize the evolving approaches and progress to date, and identify immediate-term research needs. The National Institutes of Health (NIH) and the NHLBI are supporting a portfolio of large-scale genetic . . . [Full Text of this Article]

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