Researchers to study relationship to environmental exposures
BETHESDA, MD – Scientists at the National Institute of Environmental Health Sciences (NIEHS, www.niehs.gov), part of the U.S. Department of Health and Human Services’ National Institutes of Health (NIH), in Research Triangle Park, NC are collaborating with scientists from the University of North Carolina/Chapel Hill (UNC) on a registry which eventually will include 20,000 patients at various UNC medical facilities and allow researchers to study more intensively the relationship between environmental exposures, genetic susceptibility, and human disease.
The Environmental Polymorphism Registry was initiated by Dr.
Perry Blackshear, NIEHS director of clinical research, and Dr. Patricia Chulada, NIEHS health scientist administrator. Their collaborators at UNC are Dr. Paul Watkins, director of the eneral clinical research center, and Susan Pusek, director of training and career development.
A pilot study launching the registry requested consent from 600 patients at UNC outpatient clinics. About 80% of those asked agreed to allow a portion of blood drawn for other medical purposes to be used for the isolation of DNA which was placed in the registry depository. The samples are coded to protect the identity of donors and then made available for researchers at the National Institutes of Health, including NIEHS, UNC, and their collaborators to screen for the presence of genetic variants, called polymorphisms (literally “many forms”), in a category of genes known as “environmentally sensitive” genes.
These genes control how our bodies handle substances from the environment, encoding proteins which regulate a wide variety of cell functions such as toxicant and drug metabolism, cell proliferation, and differentiation, cell cycle, cell death, DNA repair, signal transduction, hormone receptors, immune and inflammatory responses, and others.
In recruiting volunteers for the registry, health status isn’t a requirement, whether a patient has a disease or condition or not. The only requirement is that the patient be 18 years of age or older
to give consent.
Dr. Blackshear said that the registry will be unusual in that patient identifiers will be maintained in coded form, giving scientists the ability to re-contact participants at a later date for follow-up studies. Data from follow-up studies will allow scientists to identify groups of individuals with genetic polymorphisms in “environmentally sensitive” genes and possibly to correlate their genetic variants with patients’ clinical histories and current health status.
Recruitment for the registry will begin soon at the Ambulatory Care Center at Mason Farm Rd. and S. Columbia St. in Chapel Hill, NC. Other sites at UNC-affiliated medical facilities may be added. Dr. Blackshear may be contacted at 1-919-541-4899.