Eric Boerwinkle, Ph.D.
Eric Boerwinkle, Ph.D.
Director, Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, Texas
Building on GWAS for NHLBI Diseases: The CHARGE Consortium
Administered by the NHLBI Division of Cardiovascular Sciences, Epidemiology Branch
FY 2009 Recovery Act Funding: $12,281,613
Eric A. Boerwinkle, Ph.D., has spent about 25 years trying to figure out why cardiovascular disease runs deep in some families but not in others. His scientific career marries a need to solve serious health problems that affect millions of people with the cunning to do these studies with mathematical precision.
Research Focus: As a statistical geneticist, Dr. Boerwinkle examines expansive data sets to glean meaning about health and disease. Although it may sound counterintuitive, he finds that the most accurate conclusions about individual health come from studies of large numbers of participants, because they rule out "noise" in data caused by chance occurrences in single participants.
Dr. Boerwinkle is part of a large research team called the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. This project is an effort involving NIH, academic institutions and research organizations.
Studying this "group of groups" allows Dr. Boerwinkle and the team to search for genetic links to heart, lung and blood diseases by collecting and analyzing DNA sequence and health data from thousands of participants in population-based cohort studies.
Grant Close-Up: Dr. Boerwinkle's Recovery Act project will re-read, or re-sequence, large regions of the human genome that look suspicious as disease hotspots from previous data obtained by the CHARGE consortium. They will compare this information with the same regions of DNA from healthy people. The project will have a "multiplier effect" since the results will be housed in an NIH database available to the broader scientific community.
Although the CHARGE consortium also includes collaborators outside of the United States from the Rotterdam Study (RS) and the Age, Gene/Environment Susceptibility (AGES) - Reykjavik Study, these studies were not included in this project due to U.S. restrictions for Recovery Act funding. However, the Recovery Act CHARGE consortium project will examine data from one additional U.S.-based population study, the Coronary Artery Risk Development in Young Adults.
Another aspect of Dr. Boerwinkle's Recovery Act project is a brute-force approach to searching for genetic causes of low or high high-density lipoprotein (HDL) cholesterol. HDL carries cholesterol to the liver, which removes it from the body. Higher levels of HDL are associated with a lower chance of getting heart disease. This study will use highly efficient methods to sequence the DNA of the entire genomes of 230 African Americans known to have abnormally high or low HDL levels in their blood. The approach should help evaluate heart disease in populations at risk.
Public Health Impact: Earlier this year, Dr. Boerwinkle and the CHARGE consortium used genome-wide association, or GWAS, approaches and found strong genetic clues for stroke and high blood pressure. Now, the team will take that research to the next level to sleuth the suspect genes and find the exact inherited risk factors hinted at by the earlier work. The Recovery Act project will also search broadly for other as yet to be discovered genetic signatures of heart, lung and blood diseases. These studies should provide a valuable resource to the scientific community and may lead to new knowledge about the molecular roots and pathways of disease.
"Cardiovascular disease and its risk factors have a huge impact on public health because they affect men and women of all ethnicities," said Dr. Boerwinkle. "This is a critical problem to solve."
Economic Impact: According to Dr. Boerwinkle, Recovery Act funds will stimulate the economy by employing approximately 40 research scientists, project managers, graduate students, and administrative staff. Specialized equipment will be purchased using Recovery Act funds, providing a boost to both local and regional scientific suppliers. According to Families USA's 2007 economic analysis, each $1 investment in Texas created an additional $2.49 in state economic output (increased output of goods and services).
Playing with the Team: Dr. Boerwinkle enjoys working as part of a large group of people with whom he can bounce off ideas.
"I do my best when I can work with people who are smarter than I am," Dr. Boerwinkle said. "On this project, I am fortunate to work with the nicest and smartest group of people you could imagine."
By Alison Davis, Ph.D.