Some clues to treatments are beginning to emerge in animal models, and scientists expect future therapies to be very specific to the type of RP.
"Perhaps one patient will benefit from dramatically limiting exposure to sun or artificial light, and another will use certain vitamins or supplements to stop progression of the disease," says Heckenlively. "Obtaining a molecular diagnosis is going to be very important in helping to guide gene-based treatments for patients in the coming years," he concludes.
Ayyagari's study involved 70 individuals with a clinical diagnosis of arRP. Thirty-five had not been previously screened, and 35 others with known genetic mutations were screened to validate the results.
The arRP-I chip contained sequences, or genetic codes, of 11 genes that carry approximately 180 mutations associated with early-onset retinal degenerations. To date more than 30 genes have been identified for various forms of RP. Ayyagari notes that while the size of the chip currently limits the ability to array all known RP genes, larger platforms are likely to be available soon.
The arRP-I chips designed by the Kellogg research team produced 97.6 percent of the sequence analyzed with greater than 99 percent accuracy and reproducibility. The material cost of the arRP-I chip was 23 percent less that of current sequencing methods. That figure does not take into account the substantial savings in time and labor realized by analyzing multiple genes at once. These chips can detect both previously known and novel mutations.
Kellogg scientists and physicians expect that genetic technologies will grow dramatically in the next five years, particularly as additional space becomes available in the recently approved expansion to the Eye Center.
A proposed expansion of the U-M's eye disease genetic t
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Contact: Betsy Nisbet
bsnisbet@umich.edu
734-647-5586
University of Michigan Health System
15-Sep-2005