Mass. Eye and Ear Team Awarded NIH Grant to Study Genetic Factors Underlying Glaucoma
Contact: Mary E. Leach
Boston (Sept. 24, 2008) – The Genes, Environment and Health Initiative (GEI) of the National Institutes of Health (NIH) today awarded grants, estimated to be up to $5.5 million for six studies aimed at finding genetic factors that influence the risks for stroke, glaucoma, high blood pressure, prostate cancer and other common disorders.
Two researchers from the Massachusetts Eye and Ear Infirmary received a grant for the only ophthalmology project funded in this initiative. Lou Pasquale, M.D., co-director of the Mass. Eye and Ear Glaucoma Service and assistant professor of Ophthalmology at Harvard Medical School, and Janey Wiggs, Ph.D., Mass. Eye and Ear physician/researcher, will serve as co-primary investigators on a two-year, $850,000 project that involves identifying and characterizing POAG susceptibility to reveal environmental determinants that influence the disease process and to better understand how the environment and genetics contribute to this complex disease. The other members of the glaucoma research team include David Hunter, ScD., Harvard School of Public Health, Jae Hee Kang, Sc.D., Brigham and Women’s Hospital, and Jonathan Haines, Ph.D., Vanderbilt School of Medicine.
The grantees will use a genome-wide association study to rapidly scan markers across the complete sets of DNA, or genomes, of large groups of people to find genetic variants associated with a particular disease, condition or trait.
“Genome-wide association studies are helping us take major strides towards identifying the genetic variants associated with common diseases,” said National Human Genome Research Institute (NHGRI) Acting Director Alan E. Guttmacher, M.D., who is co-chair of the GEI coordinating committee. “This initiative will yield valuable information about the biological pathways that lead to health and disease and about how genetic variants, environmental factors and behavioral choices interact to influence disease risk. Such information is vital to our efforts to develop more personalized approaches to health care.”
GEI is collaboration between genetic researchers and environmental scientists. Six GEI-supported genome-wide association studies, overseen by NHGRI, are already under way. Two additional GEI studies, supported and managed by the National Institute of Dental and Craniofacial Research, have also begun. In addition, the National Institute of Environmental Health Sciences is overseeing GEI-supported research that seeks to develop wearable sensors and other technologies to accurately measure personal exposures to environmental agents.
Funding for the latest round of studies was contributed by all of NIH’s 27 institutes and centers. The principal investigators, their approximate funding for fiscal years 2008 and 2009, and their research projects are:
- Kathleen Barnes, Ph.D., Johns Hopkins University School of Medicine, Baltimore; $1.2 million. Genome-Wide Associations: Environmental Interactions in the Lung Health Study.
- Myriam Fornage, Ph.D., University of Texas Health Science Center, Houston; $1.1 million. Genome-Wide Association Study of Longitudinal Blood Pressure Profiles from Young Adulthood to Middle-Age.
- Christopher Haiman, Sc.D., University of Southern California, Los Angeles; $210,000. A Multiethnic Genome-Wide Scan of Prostate Cancer.
- John Heit, M.D., Mayo Clinic, Rochester, Minn.; $1.1 million. Genome-Wide Association of Venous Thrombosis (Blood Clots in Veins).
- Braxton Mitchell, Ph.D., University of Maryland School of Medicine, Baltimore; $1.1 million. Genetic Risk to Stroke in Smokers and Nonsmokers in Two Ethnic Groups.
- Louis Pasquale, M.D., Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, $850,000. Genes and Environment Initiative in Glaucoma.
Data from the genome-wide association studies will be deposited in the database of Genotypes and Phenotypes (dbGaP), http://view.ncbi.nlm.nih.gov/dbgap, at the National Center for Biotechnology Information, a part of the National Library of Medicine at NIH, which will manage the vast amount of genetic, medical and environmental information that emerges from GEI. To encourage rapid research advances, and in keeping with the principles pioneered by the Human Genome Project, all data generated through these initiatives will be made available to researchers, consistent with NIH’s data-sharing policy for NIH-supported, genome-wide association studies, which is available on NIH’s Office of Extramural Research Genome-Wide Association Studies Web page at http://grants.nih.gov/grants/gwas/.
For researchers who want to view genome-wide association data produced by GEI, dbGaP offers two levels of access. The first is open-access, which means the information will be available without restriction on the Internet, and the second is controlled-access, which requires preauthorization for the individual researcher seeking to view it. The open-access section will allow users to view study documents, such as protocols, questionnaires and summaries of phenotype data. The second is the controlled-access portion of the database, which allows approved researchers to download individual-level genotype and phenotype data from which the study participants’ personal identifiers, such as names, have been removed. More information on genome-wide association studies can be found at www.genome.gov/17516714. More information on environmental impacts on health can be found at www.genome.gov/17516715.