The $63 million NHLBI Large-Scale DNA Sequencing Project is a "Grand Opportunity" Recovery Act project that will find genetic signatures for heart, lung, and blood diseases that account for 3 of the 4 leading causes of death in the United States. President Barack Obama announced the award September 30, 2009, as part of the $5 billion in new scientific research that is being underwritten by funds from the $787 billion American Recovery and Reinvestment Act.
A team of researchers across the United States will meticulously analyze the DNA of more than 8,000 people that has been gathered from both individual patients and population studies investigating heart, lung and blood diseases.
Population studies, often called cohort studies, have carefully tracked health outcomes in large, genetically and ethnically diverse groups of people over many years. The NHLBI has obtained permission to collect and analyze DNA from these studies. These gold mines of health information will help researchers uncover genetic variants that align with observable traits of health and disease.
The NHLBI has long been a leader in conducting population studies for heart, lung, and blood diseases. The Large-Scale DNA Sequencing Project continues this tradition by directing multiple population studies and participant samples through two sequencing centers to streamline data analysis and avoid repetition. The results will be publicly accessible. The studies that will be examined as part of this project comprise cardiovascular disease, lung disease, myelodysplastic disorders, women's health, and a consortium encompassing heart, lung, and blood disease. They are listed below.
"Human Exome Sequencing in Six Well-Phenotyped NHLBI Cohorts"
Stephen Rich, Ph.D., University of Virginia, Charlottesville
1. Atherosclerosis Risk in Communities (ARIC) Study
2. Cardiovascular Heart Study (CHS)
3. Multi-Ethnic Study of Atherosclerosis (MESA)
4. Coronary Artery Risk Development in Young Adults (CARDIA)
5. Jackson Heart Study (JHS)
Each study described above surveyed equal numbers of men and women.
"ARRA – NHLBI Lung Cohorts Sequencing Project"
Michael Bamshad, M.D., University of Washington, Seattle
1. Genomic Research on Asthma in the African Diaspora (GRAAD)
2. Lung Health Study (LHS)
3. Molecular Determinants of Pulmonary Arterial Hypertension (PAH) Study
4. Acute Lung Injury (ALI)
5. Cystic fibrosis (CF)
"Whole Genome Sequencing of Myelodysplastic Syndromes"*
Timothy Graubert, M.D., Washington University, St. Louis, Mo.
* Myelodysplastic syndrome is a poorly understood set of diseases of the blood. It used to be known as "pre-leukemia" because it can lead to that type of blood cancer. Because it is relatively rare, large population studies are not possible. Thus, Dr. Graubert’s team will use a method called whole-genome sequencing to analyze the DNA from the cells of patients who have this disorder. All the work will be done at the Genome Center at Washington University, St. Louis, Mo.
"WHI Sequencing Project (WHISP)"
Rebecca Jackson, M.D., Ohio State University Medical Center, Columbus
Women's Health Initiative Observational Study
Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
The CHARGE consortium is an ongoing study--a "group of groups"--that will re-analyze genome-wide association study (GWAS) data from several population-based studies. By pooling data from many studies, the scientists hope to uncover genetic signatures for heart, lung, and blood diseases.
CHARGE is a team effort between NIH, several universities, and other research organizations that consists of five participating population studies (cohorts):
Last Updated February 2, 2010