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Student Receives 2025 Pulitzer Center Reporting Fellowship

New Insight into Leading Cause of Blindness.

January 4, 2016
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An international study co-authored by School of Public Health and School of Medicine researchers has identified the number of genetic factors known to play a role in age-related macular degeneration (AMD), the worldwide leading cause of blindness in the elderly.

This new discovery may help to further research into the biological processes that results in AMD and allow for the development of new therapeutics, including a personalized medicine approach for treating the debilitating disease, the research team said.

AMD is a progressive ocular neurodegenerative disease affecting approximately 150 million people globally. The disease results in the loss of sharp, central vision by causing damage to the cells that sense light at the back of the eye. It is most common in adults over 50, and its development is believed to be influenced by a variety of factors, including genetic pre-disposition and environmental and lifestyle factors such as tobacco use and diet. Currently, no cure or preventive measure is available.

The International AMD Genomic Consortium—composed of 26 centers worldwide, including SPH and MED—collected and analyzed genetic data from more than 43,000 people to identify variations in genes associated with AMD. They found the number of loci (discrete genetic regions) involved in the development of AMD has expanded from 21 to 34, with a total of 52 variants discovered.

The findings appear in the journal Nature Genetics. Lindsay Farrer, a professor of epidemiology and biostatistics and chief of the biomedical genetics division at MED, was a co-leader of the study.

“This new discovery is critical to furthering advances in AMD research and development of new therapeutics, as the variants associated with AMD risk and the genes that contain them are potential targets for novel drugs,” said Farrer. ”It is likely that the large number of genes implicated in our study collectively have roles in multiple pathways.

“Using the concept of personalized medicine, the goal would be to develop a drug to target a particular pathway for individuals having a discrete genetic profile,” he added.

The study was funded by the National Eye Institute and National Institutes of Health grants from the National Human Genome Research Institute, the National Institute on Aging, and the National Center for Advancing Translational Sciences.

–Lisa Chedekel

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