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NIH Awards UPenn Researchers $11.2M to Elucidate Genetics of Primary Open-Angle Glaucoma

NEW YORK (GenomeWeb News) – Researchers from the Scheie Eye Institute at the University of Pennsylvania have been awarded a five-year, $11.2 million grant from the National Institutes of Health to investigate the genetic risk factors of African-Americans for developing primary open-angle glaucoma (POAG).

In an announcement made on Tuesday, the Perelman School of Medicine at UPenn said that Joan O'Brien, chair of the department of ophthalmology at the Perelman School of Medicine at UPenn, and director of the Scheie Eye Institute, will be the primary investigator on the grant. Along with colleagues she will conduct a genome-wide analysis of POAG in African-Americans to identify the biological pathways and networks underlying the disease. The research will involve nearly 13,000 patients, including 4,400 with POAG, and more than 8,300 controls. About 2,500 patients have enrolled in the study so far.

The Kaiser Permanente Research Program, which received ARRA Stimulus funding to analyze 100,000 genomes, will provide additional data to the effort. Analysis of the data will be performed in collaboration with Stanford University, the Perelman School said.

According to the school, POAG affects African-Americans disproportionately and is the leading cause of irreversible blindness in that population. Compared to Caucasians, POAG appears nearly 10 years earlier and progresses more rapidly in African-Americans.

About 2 million Americans suffer from the condition, yet researchers still have a "poor understanding" of the causes of the disease, O'Brien said.

"By dissecting the disease into subtypes … and understanding the different genetic underpinnings of the disease, we can begin to develop better, more targeted treatment options," she said in a statement. "Once these genomes are analyzed in this understudied and over-affected population, the data can be used to create a risk model of POAG in African-Americans, and inexpensively re-analyzed to elucidate the genetics of other diseases that disproportionately affect this population"