UPenn researches glaucoma in Blacks

Dr. Joan O’ Brien, director of the Scheie Eye Institute, is examining a patient. O’Brien is the primary investigator of a study of genetic risk factors that make African Americans more likely to develop primary open-angle glaucoma. — PHOTO COURTESY OF PENN MEDICINE COMMUNICATIONS

Researchers at the Scheie Eye Institute of the University of Pennsylvania are delving into the genetics of glaucoma in African Americans.

The researchers have been awarded a five-year, $11.2 million grant from the National Institutes of Health (NIH) to study the genetic risk factors that make African Americans disproportionately more likely to develop primary open-angle glaucoma (POAG).

POAG appears almost ten years earlier and progresses more rapidly in African Americans than among Caucasian individuals, making it the leading cause of irreversible blindness in this population.

“It’s interesting because glaucoma affects Africans Americans much earlier and more severely than Caucasian populations but yet they are understudied,” said Dr. Joan O’Brien, chair of the department of ophthalmology in Penn’s Perelman School of Medicine, director of the Scheie Eye Institute and primary investigator on the study. “We can precisely study what is it about these genetic underpinnings in the African American population that make them predisposed to the worse form of this disease and that approach has not really been taken in this population. I think that it is extremely important to study the most affected populations because it’s the right thing to do but also because you will learn more by studying those with extreme disease.”

POAG is a group of diseases that cause progressive and irreversible retinal ganglion cell damage, optic nerve degeneration, and corresponding visual field loss.

While glaucoma affects about two million Americans, researchers have a poor understanding of what causes POAG, which hinders early identification and focused treatment of the disease.

O’Brien will work with Scheie glaucoma specialists, Dr. Eydie Miller-Ellis, Dr. Prithvi Sankar and Dr. Meredith Regina, to conduct a comprehensive genetic analysis of POAG in African Americans. Their analysis will help identify the biological pathways underlying the disease in 12,766 patients - 4,400 with POAG and 8,365 controls. To date, 2,500 Philadelphia-based patients have enrolled in the study.

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.

“We know that there is a genetic component to the disease, as family history has a strong influence,” O’Brien said. “By dissecting the disease into subtypes [called endophenotyping] and understanding the different genetic underpinnings of the disease, we can begin to develop better, more targeted treatment options.”

O’Brien said the study has major implications for African Americans in Philadelphia.

“I think that this will have a larger effect on the health of Philadelphia,” she said.

For enrollment information call 800-789-PENN or (215) 662-8657.


Contact Staff Writer Ayana Jones at (215) 893-5747 or ajones@phillytrib.com.

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