News Release

Monday, February 6, 2006

NHLBI to Launch Framingham Genetic Research Study

A comprehensive genetic research study to identify genes underlying cardiovascular and other chronic diseases will be launched by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH) in collaboration with the Boston University (BU) School of Medicine.

The new research effort, the Framingham Genetic Research Study, will be part of the NHLBI’s long-running Framingham Heart Study (FHS) and will involve up to 500,000 genetic analyses of the DNA of 9,000 study participants across three generations. The NIH National Center for Biotechnology Information, part of the National Library of Medicine, will help develop a study database that will be made available at no cost to investigators throughout the world. The database will provide opportunities for other experts to search for associations between genes and diseases.

“This important study will take genetic research in the Framingham study to the next level — accelerating discoveries on the causes, prevention, and treatment of major chronic diseases,” said NHLBI Director Elizabeth G. Nabel, M.D. “Using the latest technology, researchers will be able to obtain more information about the connection between unique genetic variations in DNA and cardiovascular disease risk factors as well as the genetic basis for heart attack, stroke, and other chronic diseases.”

Since 1948, the Framingham Heart Study has studied the health of many of the Massachusetts town’s residents. The study has been the source of key research findings regarding the contributions of hypertension, high cholesterol, cigarette smoking and other risk factors to the development of cardiovascular disease. Researchers at the NHLBI and BU, including physicians, geneticists, statisticians and epidemiologists, have conducted this important research in partnership with the Framingham Heart Study for decades.

“This unique opportunity to increase our knowledge about health and disease is made possible by three generations of Framingham study participants who have donated their time to advance medical research,” said Karen Antman, M.D. Dean of Boston University School of Medicine and Provost of Boston University Medical Campus.

BU and the NHLBI have a longstanding commitment to protecting the confidentiality of Framingham Heart Study data and the privacy of the participants and their families. The Framingham Heart Study has obtained detailed informed consent from study participants for genetic research. An important priority of the new study is to ensure the privacy and confidentiality of the medical information obtained. NHLBI and BU have reviewed the project along with several Framingham Heart Study oversight boards, including an ethics advisory board. Additional oversight will be provided by an executive committee, which will monitor the conduct of the study. This committee will include a participant from the Framingham Heart Study and the Chair of the Framingham Ethics Advisory Board.

The new study will take advantage of knowledge gained from the Human Genome Project’s sequencing and mapping of all human genes — together known as the genome — and from the recently completed HapMap Project, which charted the pattern of genetic variation in the human genome.

The HapMap Project showed that common but minute variations in human DNA occur about once in very 1,000 base pairs of DNA across the human genome, which contains about three billion base pairs. These variations, called single nucleotide polymorphisms (SNPs), can be used to identify genetic contributions to common diseases. The Framingham Genetic Research Study will use recently developed technology that now allows rapid genotyping of about 500,000 of these SNPS in each individual.

Computer programs will then help scientists relate these alterations to many of the clinical and laboratory measurements made of study participants during their examinations, according to Christopher O’Donnell, M.D., associate director of the FHS and scientific director of the new project. “Then we hope to identify the genetic variations that are most strongly related to participant characteristics such as levels of cholesterol and systolic blood pressure,” O’Donnell said.

“In support of this project, BU and the NHLBI will apply teams of data managers, data base administrators and its extensive computing resources. The partnership between the Framingham investigators and study participants is an important one and they have made major contributions to the FHS. This new project will expand the research possibilities, said Philip Wolf, M.D. Principal Investigator of BU’s contract to administer the Framingham Heart Study.

“Ultimately we hope this research will lead to new treatments and better strategies to prevent cardiovascular and other diseases,” said Daniel Levy, M.D., director of the Framingham Heart Study.

To interview Dr. Nabel, Dr. O’Donnell, or Dr. Levy, M.D., contact the NHLBI Communications Office at 301-496-4236. To interview Dr. Antman and Dr. Wolf, contact Ellen Berlin or David Goldberg at 617-638-8491.

NHLBI is part of the National Institutes of Health (NIH), the Federal Government’s primary agency for biomedical and behavioral research. NIH is a component of the U.S. Department of Health and Human Services. NHLBI press releases and other materials are online at For more information on the Framingham Heart Study, visit:

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit

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