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Comprehensive set of vision genes discovered: Identification could help in diagnosing and treating blinding diseases

Boston, MA Harvard Medical School researchers have discovered nearly all the genes responsible for vision, which could help in diagnosing and treating blinding diseases. Macular degeneration alone affects twenty-five percent of people over age 75. The discovery of the full set of photoreceptor genes expressed in the retinal cells, which was made in mice, could also lead to new methods for preserving and restoring the vision of those affected.

Photoreceptors cones, which are activated by light, and rods, which operate only at night are susceptible to a wide variety of inherited diseases, such as retinitis pigmentosa and cone-rod dystrophy. The newly identified gene set, which is reported in the November 30 Cell, could lead to the identification of genes which, when mutated, cause these degenerative diseases.

"We've cut down the search for disease genes by 100-fold," said Connie Cepko, HMS professor of genetics and senior author of the study. People at risk for inherited retinal disease estimated to be one person in 2,000 could be screened for these mutants. The newly identified genetic data base could lead to new methods for slowing or staying the course of disease once it occurs.

"The more we know about how the genes work, the better we will be able to find ways to treat, and possibly, prevent disease," said Cepko. Information about how the genes work inside photoreceptors which genes are turned on and when could even lead to ways to replace dead or damaged cells. "Can we manipulate these genes in such a way to coax stem cells to become photoreceptors?" she said.

A little more than half of the mutant genes for degenerative diseases of the retina had been identified when Cepko, Seth Blackshaw, a postdoctoral fellow in Cepko's lab and lead author of the study, and colleagues began their study. Using a computer program that compares snippets of genetic material taken from mouse retinal tissue with a huge genetic data base f
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Contact: Judith Montminy
judith_montminy@hms.harvard.edu
617-432-0443
Harvard Medical School
29-Nov-2001


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