U of A finds gene for macular eye disease

A far-reaching research collaboration has found the gene that causes a major degenerative eye disease.

The study, published in January, discovered a gene that may contribute to some forms of degeneration in the central part of the retina. This suggests that some people may be genetically prone to develop a specific type of the age-related disease.

“We now know what the gene underlying the disease is,” says Pam Legali, a graduate student who helped analyze the DNA samples. “The whole discovery happened rather quickly.”

Ian MacDonald and colleagues from the University of Alberta’s Department of Ophthalmology studied an extended family with a history of a rare form of macular degeneration. Blood samples sent for DNA analysis found the chromosome which caused the defect.

MacDonald and the researchers were surprised to learn afterwards that several other centres in the United States were doing similar research on similar families, who turned out to be distantly related to one another. They also found they had mapped the same region of DNA. By pooling their data, they were able to find one faulty gene behind the disease.

Although the mapped gene is related to a relatively rare form of macular degeneration, Legali says it shares many features similar to more common types of age-related macular degeneration.

“It’s really exciting to see everything happen so quickly,” Legali said. “This just shows you the benefits of collaboration with other groups in science.

“Right now, our lab is looking at how the gene disrupts retinal function. Once we understand that, we might be able to develop treatments for those affected by the disease.”

Legali is also working on other projects related to macular degeneration.

“We are looking to other families with similar diseases. We’re also looking at the effects of the disease on rats and animal models,” she said.