What our genes tell us - Identifying biomarkers for key environmental risk factors

Oct 4 2007

Identifying biomarkers for the key environmental risk factors responsible for two diseases that significantly contribute to death and disease of hundreds of thousands annually will be the initial focus of a new center being established at Pacific Northwest National Laboratory.

PNNL will house the Center for Novel Biomarkers of Response, made possible by a $5.9 million grant recently awarded by the National Institutes of Health's Gene and Environment Initiative.

Scientists at the center intend to create new exposure assessment tools to better understand the role of gene-environmental interactions in human disease. Development of these tools will help scientists precisely measure personal exposure to environmental, chemical and biological agents.

"While the Human Genome Project has enabled faster, cheaper gene sequencing of individuals," said PNNL Center Director and toxicologist Joel Pounds, "genes alone don't tell the whole story. The environment plays an enormous role in complex disease development including cancers, asthma, diabetes and neurodegerative diseases."

"We can identify genetic variability and the genetic factors in an individual person, but it is much more difficult to define an individual's environment and chemicals he or she is exposed to," said Pounds. "Our challenge will be to understand how genes and the environment interact. To do that, we have to improve the ability to measure environmental factors at the individual level."

Two of the most important risk factors for human morbidity and mortality - cigarette smoke and obesity - will be the primary targets of interest for PNNL scientists. Research will focus on biomarkers for systemic stress caused by mainstream and second-hand cigarette smoke, with obesity as a confounding physiological factor. PNNL will team with researchers from the University of Utah and Battelle Toxicology Northwest in conducting this research.

This research, in support of the NIH Gene and Environmental Initiative, is comprised of two basic elements. The genetic component will rely on newfound abilities to swiftly identify genetic differences between people with illnesses and those who are healthy, leading to a greater understanding of genetic contribution to the disease. The environmental biology component will focus on developing new technologies to accurately measure personal exposures with small, wearable sensors that can be used to assess environmental agents.

The center will provide NIH's National Institute of Environmental Health Sciences with a database of response biomarkers, as well as chemical substances for selected markers that are tested and validated in humans and supported by parallel studies in mice. The researchers will also develop prototype nanotechnology-based sensors for measurement of biomarkers at the point of care.

Plasma samples for the study will be obtained from 500 individuals participating in a study being conducted by the University of Utah. That study includes non-smokers, smokers, smokers with chronic obstructive pulmonary disease, and people exposed to second-hand smoke. Researchers at the W.R. Wiley Environmental Molecular Sciences Laboratory located at PNNL will identify the peptides from these samples using state-of-the art tandem mass spectrometry.

Over the course of the four-year project, scientists will work closely with PNNL's Environmental Biomarkers Initiative. The EBI is an internally funded program, which has provided the scientific foundation and initial laboratory tools for the NIH center.

PNNL is a DOE Office of Science national laboratory that solves complex problems in energy, national security and the environment, and advances scientific frontiers in the chemical, biological, materials, environmental and computational sciences. PNNL employs 4,200 staff, has a $750 million annual budget, and has been managed by Ohio-based Battelle since the lab's inception in 1965.

The William R. Wiley Environmental Molecular Sciences Laboratory is a national scientific user facility sponsored by the Department of Energy's Office of Biological and Environmental Research and located at Pacific Northwest National Laboratory.