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Member Research & Reports

Member Research & Reports

Pittsburgh Part of International Study that Reveals New Genetic Clues to Age-related Macular Degeneration

The University of Pittsburgh Graduate School of Public Health recruited hundreds of local participants and analyzed data for an international study that has significantly expanded the number of genetic factors known to play a role in age-related macular degeneration (AMD), a leading cause of vision loss among people age 50 and older.

[Photo: Dr. Daniel Weeks]

Supported by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), the findings may help improve our understanding of the biological processes that lead to AMD and identify new therapeutic targets for potential drug development and predictive genetic tests. The results are published in today’s issue of the journal Nature Genetics.

“It was exciting to be part of this high-quality international consortium, representing an important step forward in international research collaboration,” said co-author Dr. Daniel Weeks, professor in the departments of human genetics and biostatistics at Pitt Public Health. “This is a study that none of us could have done alone — we never could have achieved the statistical power needed to draw meaningful results. This work opens the doors to potential new treatments for a devastating disease.”

AMD is a progressive disease that causes the death of the retinal photoreceptors, the light-sensitive cells at the back of the eye. The most severe damage occurs in the macula, a small area of the retina that is needed for sharp, central vision necessary for reading, driving and other daily tasks. There currently are no Food and Drug Administration-approved treatments for the more common form of advanced AMD, called geographic atrophy or “dry” AMD.

AMD is caused by a combination of genetic, environmental and lifestyle risk factors. For example, smoking increases the risk of the disease, while eating leafy greens and fish may reduce the risk. Up to this point, researchers had identified 21 regions of the genome — called loci — that influence the risk of AMD. The new research brings the number to 34 loci.

The International AMD Genomics Consortium, which includes 26 centers worldwide, collected and analyzed the genetic data from 43,566 people of predominantly European ancestry to systematically identify common and rare variations in genetic coding — called variants — associated with AMD. Pitt Public Health contributed data from 839 people recruited in the Pittsburgh region by former Pitt professor Dr. Michael Gorin, now with the University of California, Los Angeles.

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