|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
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 www.nhlbi.nih.gov.
For more information on the Framingham Heart Study, visit: http://www.nhlbi.nih.gov/about/framingham/.
The National Institutes of Health (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. It is the primary Federal
agency for conducting and supporting basic, clinical, and translational medical
research, and it investigates the causes, treatments, and cures for both common
and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.