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In retinal disease, sight may depend on second sites
Date:5/12/2009

If two people have the same genetic disease, why would one person go blind in childhood but the other later in life or not at all? For a group of genetic diseases so-called ciliary diseases that include Bardet-Biedl syndrome, Meckel-Gruber syndrome, and Joubert syndrome the answer lies in one gene that is already linked to two of these diseases and also seems to increase the risk of progressive blindness in patients with other ciliary diseases. The findings are published online this week at Nature Genetics.

We are limited in our ability to predict how seriously a genetic disease will affect individual people, even when changes in specific genes have been identified and tied to particular diseases, says Nicolas Katsanis, Ph.D., an associate professor of ophthalmology and molecular biology and genetics at the Johns Hopkins School of Medicine McKusick-Nathans Institute of Genetic Medicine. "In the same way that no two people get exactly the same cancer even though they might carry the same genetic alterations, we know little about how one individual's disease will interact in the context of their other genes."

One major obstacle to accurately predicting how a disease plays out in individual patients, Katsanis says, is our poor understanding of "second-site" changes in DNA. These so-called modifiers are alterations in other genes that can affect the functions of the genes that contribute directly to a given disease.

"Every disease can be considered complex because of modifiers," says Katsanis. "And we know very little about modifiers, what they are and how they affect disease progression. In the case of ciliary diseases where there is a risk of retinal degeneration and blindness, we want to be able to use a person's genetic information to predict whether or not he or she will go blind and how quickly."

To identify modifiers of ciliary diseases, the team of scientists examined DNA from patients of northern European desc
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Contact: Audrey Huang
audrey@jhmi.edu
410-614-5105
Johns Hopkins Medical Institutions
Source:Eurekalert

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