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Framingham Heart Study leaps into genetics

New chips take researchers a thousand times closer to mutations

Philip Wolf, a principal investigator of the Framingham Genetic Research Study

The Framingham Heart Study, one of the largest and longest-running epidemiological research projects in the world, is about to take a giant step forward, and inward — deep into the DNA of its 8,500 participants.

The study, whose primary interest is the causes of cardiovascular disease, has been run almost since its 1948 beginning by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health, and in conjunction with Boston University since 1971. It has been looking at the genetic markers of participants for nearly 20 years, but advances in computer chip technology have now made it possible to take a quantum leap, from analyzing 400 genetic markers on each individual to analyzing 500,000 genetic markers.

“We are moving from the hundreds of markers to the hundreds of thousands,” says Larry Atwood, an associate professor at the School of Medicine, who works on the study. “This technology will get us much, much closer to where the mistakes and the mutations are that are causing disease. In fact, it gets us a thousand times closer.”

Atwood says the leap is made possible by the power of the latest generation of computer chips, some of which can hold the entire genetic code of a human being. Computer programs will help scientists relate genetic alterations to laboratory measurements of study participants.

The new research effort, called the Framingham Genetic Research Study, is being launched by the NHLBI in collaboration with the School of Medicine, which has overseen the Framingham Heart Study since 1971.  Philip Wolf, the principal investigator for the project and a professor of neurology at the School of Medicine, says the challenge now will be handling the volume of data.

“We have a great deal of information,” says Wolf. “We have thousands of people who have been coming in every two years since 1948. Some of them are over 100 years old, and we have records of every medical trait that we now can relate to genetic data.”

Karen Antman, dean of MED and provost of the Medical Campus, is looking forward to meeting that challenge. “In the past,” says Antman, “we’ve been able to make fairly rough correlations of hypertension and heart disease. Now we should be able to say more precisely which genes are associated with which diseases, and it should take many fewer people to make those correlations.”

For more than 50 years, the Framingham Heart Study has been the source of key findings about the contributions of hypertension, high cholesterol, and other risk factors to the development of heart disease. And while heart disease remains at the core of the study’s efforts, Atwood points out that the research has grown to include almost every human disease. The NIH National Center for Biotechnology will help develop a database available at no cost to qualified investigators from around the world.

 “We are one of the first studies for which this is being done,” says Atwood. “That’s because Framingham is such a large and elaborate study. We are now at the cutting edge.”