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Pitt Study Explores The Genetics Behind Macular Degeneration

Nationwide, more than 2 million people have some form of age-related macular degeneration (AMD), according to the National Eye Institute. And a new study conducted, in part, by the University of Pittsburgh sheds more light on the disease.

“Age-related macular degeneration is the leading cause of vision loss among the elderly, with a prevalence estimated at 5 percent for those above 75 years of age,” said Daniel Weeks, human genetics and biostatistics professor at Pitt.

The study revealed 13 new genetic regions, or locations on a chromosome, associated with the disease, bringing the known total to 34, according to Weeks.

He said although they may not individually influence risk that much, it is important to know which genes are associated with the disorder.

“That leads to hope that we might be able to discover new therapies that are more effective than currently existing preventative therapies,” he said.

One known risk factor of AMD is smoking, but there is still a lot about the disease that is unknown, according to Weeks.

“For example, advanced AMD is much more common in Caucasians than in African-Americans,” he said. “And right now, we don’t understand the reasons for this. And we actually have some other research projects that are trying to look into this as we speak.”

He said although the ultimate goal is to find a cure, even delaying the onset for a few years would be an important step.

“You could actually help people have a high quality of life for more years, just slowing the age of onset,” he said.

The next step in the research is to characterize each of the genetic risk factors to try to understand how they work together, to gain even more insight into how the disease develops, Weeks said.