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Home > ARRA Stories > Dr. Stacey B. Gabriel: Cataloging Unique DNA Spellings That Correlate With Characteristics of Cardiovascular Disease
Dr. Stacey B. Gabriel: Cataloging Unique DNA Spellings That Correlate With Characteristics of Cardiovascular Disease

By Alison Davis

Photo of Stacey B. Gabriel, Ph.D.

Stacey B. Gabriel, Ph.D.

Co-director of the Genome Sequencing and Analysis Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts
Comprehensive Sequencing and Analysis of Variation in NHLBI Cohorts

Administered by the NHLBI Division of Cardiovascular Sciences, Advanced Technologies and Surgery Branch
FY 2009 Recovery Act Funding: $10,157,633

Stacey B. Gabriel, Ph.D., is a rising star in the fast-paced world of genomics. This area is a vital part of modern science - mapping genetic information to health-related outcomes is the goal of personalized medicine in which individuals can get the right treatment in the right amount at the right time.

Research Focus: Dr. Gabriel loves "big science," in which she is looking at lots of data from lots of people, involving lots of researchers, and where the impact can be very significant. She will spend her Recovery Act funds working with a team of researchers to understand how DNA changes influence heart, lung, and blood health.

Like actor Kevin Costner's character in Field of Dreams, one might say Dr. Gabriel's research mantra is "If you build it they will come." Dr. Gabriel's wish is not for a baseball diamond, but for a massive -- the biggest ever -- catalog of DNA sequence variations in phenotyped samples.

Thus, the "playing field" she and the NHLBI Large-Scale DNA Sequencing Project team will create is a huge collection of unique DNA spellings that correlate with particular signs or outward characteristics, called phenotypes of various heart, lung, and blood diseases. The catalog will be a rich library of health-related information available to thousands of scientists in the broader scientific community, significantly extending the value of the work.

Grant Close-Up: Dr. Gabriel's sequencing center is one of two centers that will analyze billions of DNA sequences from more than 8,000 people who participated in NHLBI-funded population studies of heart, lung, and blood diseases, such as the Multi-Ethnic Study of Atherosclerosis (MESA), the Framingham Heart Study, and the Lung Health Study. She will work with other researchers in the NHLBI Large-Scale DNA Sequencing Project to analyze the DNA in very fine detail using "exome sequencing".

Public Health Impact: Results from the NHLBI Large-Scale DNA Sequencing Project should be highly valuable for ongoing and future basic and clinical research on heart, lung, and blood diseases. Researchers will map specific DNA spellings to clinical outcomes-like a blood pressure reading of 140/90, high triglyceride levels in blood, or asthma attacks. The effort will help researchers to much more thoroughly understand disease risk, so tailored prevention or early treatment may be able to stop or limit the development of heart, lung, and blood diseases.

Economic Impact: Dr. Gabriel's project at the Broad Institute of Harvard and MIT will have an immediate impact on the local Massachusetts economy, which is benefiting from the infusion of NIH Recovery Act funds. In addition to purchasing highly specialized equipment, Dr. Gabriel has hired several staff who have had difficulty finding work due to the lagging economy. The new hires include research scientists, project managers, software engineers, and graduate students.

It's About the People: Dr. Gabriel grew up in the Pittsburgh suburb of Madison, Pennsylvania. A pre-med major in college, she got a part-time job as a phlebotomist, someone who is trained to draw blood. She collected blood samples from Mennonites in Lancaster, Pennsylvania, as part of a genetic research study, and was hooked instantly. Dr. Gabriel's intent to go to medical school took a back seat, and she decided on a research career.

"Working with this group of people, I became fascinated by the science and by the personal connections," Dr. Gabriel says. "I loved the discovery process of finding disease-causing genes in real people."

Alter Ego: Dr. Gabriel's attachment to science is strong and constant. "I don't know when I don't think about science," she says. However, there are a few exceptions to that rule.

"I'm an avid tennis player and I love hanging out with my 6-year-old daughter," Dr. Gabriel says. "Tennis is a stress-buster and my family keeps me grounded."

This article originally appeared on the National Heart, Lung, and Blood Institute website.

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  • Bioengineering
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  • Genetic Testing
  • Genetics
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