Stephen Rich, Ph.D.
Stephen Rich, Ph.D.
Professor of Health Sciences; Director, Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia
Copy Number Variants (CNVs) and Subclinical Atherosclerosis in MESA
Administered by the NHLBI Division of Cardiovascular Sciences, Epidemiology Branch
FY 2009 Recovery Act Funding: $494,860
Research Focus: Heart, lung, and blood diseases arise from complex combinations of genetic and environmental factors that researchers don't yet fully understand. Some genes and gene variants have been implicated so far, but many others that play a role still lurk undiscovered.
As part of the NHLBI Large-Scale DNA Sequencing Project, Stephen Rich, Ph.D. is combing through all the segments of the human genome that make protein - called the "exome" - to find as many of those undiscovered variations as possible. He also wants to pin down which genes actually contribute to heart disease and which are merely associated with it.
Grant Up Close: To accomplish this ambitious goal, Dr. Rich has brought together scientists and data from six NHLBI-funded population studies of heart disease, including:
Together, these studies have gathered extensive information from 48,000 people in a range of ages and ethnic groups. Examining them together offers a broader perspective than any single study could provide.
Comprising about 30 scientists, Dr. Rich's team will work with the two sequencing centers funded by the Recovery Act to screen the participants' genetic information. The approach will be to select participants with contrasting symptoms - for example, people with high versus low levels of calcium in their coronary arteries - look for the variations in genes that differ between the participants in the two groups, and begin identifying the variations that lead to heart disease.
Dr. Rich hopes the insights his team gains will lead to a better understanding of who is at risk for heart disease, ways to identify and reduce exposure to environmental causes, and new biological targets for treatment.
Economic Impact: Recovery Act funding has allowed Dr. Rich to keep two faculty members and hire technical staff in bioinformatics and biostatistics to analyze the sequencing data.
Along with this local support, the economic benefits have a "multiplicative effect," said Dr. Rich. Beyond the University of Virginia, the grant both creates and saves jobs at each of the six cohort sites, supporting people across the country who focus on heart, lung, and blood diseases.
Applied Math: With a love and talent for manipulating numbers, Dr. Rich excelled in math in high school and majored in it in college. Then he started taking biology classes. "I wanted to meet more girls," he said, but he ended up falling for genetics instead. While abstract math had trained him to think rigorously, population genetics offered a chance to apply his skills to combat human disease.
'A 24/7 Type of Work': "Even when you're mowing the grass or walking the dogs, you're thinking about science," said Dr. Rich. "It's like how musicians have inspiration while they're asleep, and they wake up and write down lyrics. Except we think about genomics instead of songs."
The Dream: Dr. Rich hopes to uncover the basis of why people get heart disease. Disentangling the web of genetic and environmental risk factors that contribute to heart disease would pave the way toward discovering risk-reducing drugs, developing personalized prevention and treatment plans, and giving people years of healthy life, he says. He envisions a day where, with as little as a drop of blood and a family history, a person could receive a complete profile of his or her heart disease risk.
By Stephanie Dutchen