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Home > ARRA Stories > Dr. Deborah A. Nickerson: Investigating `Exome Sequencing` to Search for Genetic Signatures of Diseases
Dr. Deborah A. Nickerson: Investigating `Exome Sequencing` to Search for Genetic Signatures of Diseases

By Alison Davis

October 8, 2009

Deborah A. Nickerson, Ph.D.

Professor of Genome Sciences, University of Washington School of Medicine, Seattle, Washington Northwest Genomics Center

Administered by the NHLBI Division of Cardiovascular Sciences, Advanced Technologies and Surgery Branch

FY 2009 Recovery Act Funding: $11,008,061

Deborah A. Nickerson, Ph.D., is an internationally known geneticist working in a cutting-edge field devoted to translating information from the Human Genome Project into ways to help people stay healthy.

Research Focus: Earlier this year, Dr. Nickerson pioneered a new method, "exome sequencing," that dramatically streamlines the ability to read DNA in the search for genetic signatures for diseases. Exome sequencing involves identifying and sequencing the "letters," or nucleotides of "exons," those nucleotides that make proteins. Exons make up only 1 percent of all of human DNA. But proteins are extremely important because they are the body's main workforce-providing structure and doing all the work carried out between cells, tissues, and organs. Dr. Nickerson's exome research was funded by the National Heart, Lung, and Blood Institute (NHLBI).

Using Recovery Act funds, Dr. Nickerson will run the Northwest Genomics Center in Seattle. With a team of researchers across the country, she will be a key leader of the landmark NHLBI Large-Scale DNA Sequencing Project, which will mine genetic data gathered from the NHLBI-funded population studies of heart, lung, and blood diseases. The Framingham Heart Study is one example of a long-running study. But there are many more, such as the Women's Health Initiative, the Acute Lung Injury cohort and the Genomic Research on Asthma in the African Diaspora.

Grant Close-Up: Dr. Nickerson's sequencing center is one of two centers that will analyze the DNA exon sequences from more than 8,000 people who participated in these long-term studies. Dr. Nickerson will work with other researchers to analyze the DNA in very fine detail to find genetic contributors to heart, lung, and blood diseases.

"It is the study participants that really make this effort possible," Dr. Nickerson said. "They are the real heroes in this work."

Public Health Impact: Over the past few years, biomedical researchers have performed genome-wide association studies (GWAS), in the quest for inherited factors of many diseases. Although GWAS approaches have provided many clues, they are not sufficient to unambiguously identify genetic hotspots for disease risk, or even resistance to these illnesses.

This work should help scientists recognize the beginning stages of serious heart, lung, and blood diseases and enable treatment early, when it is most effective in limiting or hopefully preventing these conditions that rob us of our family and friends.

Economic Impact: Because Seattle has one of the largest technology workforces in the nation, Dr. Nickerson has been able to recruit scientists, technicians, and students who are hungry for the kind of intellectually challenging work available in the Northwest Genomics Center. Many highly able workers have been laid off, and Dr. Nickerson has hired some of them. She is also excited about jumpstarting the careers of young scientists, many of whom have stalled job searches.

"They think this is the coolest job on the planet," Dr. Nickerson reported.

Why Biology?: Growing up in Queens, New York, Dr. Nickerson's parents ran a garden center. One day her father gave her a soil testing kit. She remembers him telling her to "figure it all out."

"I guess I'm still doing that," Dr. Nickerson joked. "We're still working out many of the fundamental rules in biology. It's incredibly challenging, and that's why I like it."

Dr. Nickerson is a self-professed "techie" who is drawn to figuring out how complicated things work. She admits to liking her work more because of all the cool gadgets she gets to use along the way.

Lucky Break: Although Dr. Nickerson's career began with studying the genetics of the immune system, all that changed while doing a sabbatical at the California Institute of Technology. When she arrived in Pasadena, the immunology group had no room, so she teamed with "an incredible group of people" in a technology lab group led by renowned geneticist Leroy Hood, M.D. The timing was perfect for another reason: The game-changing polymerase chain reaction had just been discovered. From that point, Dr. Nickerson never looked back and ever since has been engrossed with the fascination and complexity of DNA.

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

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