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Media Advisory: NHLBI to showcase genomics projects, breakthroughs September 12-13

For Immediate Release:
September 8, 2011, 12:00 PM EDT

The National Heart, Lung, and Blood Institute (NHLBI), part of the National Institutes of Health (NIH), will host researchers from across the country at a symposium: "Genomics: Gene Discovery and Clinical Applications for Cardiovascular, Lung, and Blood Diseases."

This two-day event will highlight genomics initiatives that are being carried out or supported by the NHLBI/NIH. Among the updates, the conference will report on two signature NHLBI efforts:

  • The Grand Opportunity Exome Sequencing Project (GO-ESP), funded through the 2009 American Recovery and Reinvestment Act, has now sequenced 5,500 human exomes, bringing the project more than halfway to the study's goal of sequencing 10,000. Exomes are the DNA regions that code for proteins; while they account for only 1-2 percent of the total genome, they represent the genome regions which determine physical traits and disease susceptibility. GO-ESP is developing a comprehensive biological database of exomes, the largest such database, linked to the corresponding physical traits of each anonymous person. The database is available to researchers and will be a valuable scientific resource.
  • The NHLBI-funded COPDGene study, one of the largest COPD studies ever undertaken, has released genetic and clinical data for 2,600 of the study's 10,000 participants. Like GO-ESP, COPDGene aims to build a database that contains the genetic differences, known as single nucleotide polymorphisms or SNPs, of 10,000 active smokers linked to the corresponding chest CT scan data for each anonymous person. With this combined genetic and imaging information, researchers expect to begin to understand why some smokers develop COPD while others do not. This information could also be used in the study of lung cancer and other lung diseases. Learn more at  

Conference attendees will discuss many other projects that aim to understand the genetics behind asthma, congenital heart defects, blood cholesterol levels, and related diseases. The symposium will also facilitate discussions as to how all these genomic advances can be translated to medical use faster.

Cardiovascular, lung, and blood diseases account for three of the top four killers in the United States and are a tremendous health burden. These diseases, including heart disease and asthma, are heavily influenced by genetic makeup. The NHLBI is a strong proponent of large-scale genomic research efforts and provides both financial support and resources from its many study cohorts to help identify the underlying genetic influences of disease and translate genomic knowledge into prediction, prevention, and personalized medicine.

The symposium will run on Monday, Sep. 12, from 8 a.m. to 6:30 p.m. and Tuesday, Sep. 13, from 8 a.m. to 3:20 p.m.

It will be held at Natcher Conference Center, Building 45, NIH Campus, Bethesda, MD

CONTACT: If you are interested in attending the symposium, scheduling an interview, or learning more about NHLBI genomics initiatives, contact the NHLBI Office of Communications at 301-496-4236 or



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