In 2005, two genetic studies of people with age-related macular degeneration (AMD)–the most common cause of blindness in people older than 65–made a surprising discovery. Research showed that defects in a gene that is an important regulator of parts of the immune system significantly increased risk of the disease. Scientists have since identified variants in several related genes that also boost risk, and which collectively account for about 50 to 60 percent of the heritability of the disorder.
|Eye colors: Drusen, the yellow flecks in this image of the retina, are common in people with age-related macular degeneration. These flecks are made up of proteins involved in the part of the immune system called the complement system, which has also been implicated in the disease by genetic studies.
Credit: National Eye Institute
At the same time that researchers identified the harmful variation linked to AMD, Gregory Hageman, now at the University of Utah, identified a protective variant found in about 20 percent of the population. “That form is so incredibly protective that people with two copies are almost guaranteed not to develop the disease,” he says. Hageman founded Optherion, a startup based in New Haven, CT, and investigated how to translate the findings into new treatments. Optherion is now producing large quantities of an engineered version of the protein and doing preclinical safety and effectiveness testing–for example, examining whether the treatment can reduce ocular deposits in mice that lack the protein, says Colin Foster, Optherion’s president. He declined to estimate when the company will begin clinical trials of the drug.