With RPB support, scientists will study gene expression as a new approach to therapy for retinal degeneration
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Debra A. Thompson, Ph.D., has played a pivotal role in identifying genes associated with a severe eye disease affecting children and young adults. The disease, Leber congenital amaurosis, is inherited and often causes blindness. Now thanks to a generous award from Research to Prevent Blindness (RPB), Dr. Thompson is building on her earlier work to explore a novel approach to therapies for this and other inherited retinal diseases.
Dr. Thompson received an RPB Senior Scientific Investigator Award, one of several grants provided by the voluntary health organization to support eye research. RPB supports scientists at over 50 institutions across the country, providing awards at various stages in a researcher’s career. Kellogg scientists have benefited from the awards, receiving over $4 million in RPB funding since 1961.
“RPB has provided critical support for basic research in ophthalmology," says Paul R. Lichter, chair of the Department. “It has allowed our scientists to explore new strategies for preventing and treating eye disease. This current award will allow Dr. Thompson to advance the development of therapies for a disease that has a devastating impact on children’s vision."
Under the RBP grant, Dr. Thompson proposes a novel therapeutic strategy based on the regulation of gene expression—that is, prompting an existing gene to compensate for a defective or malfunctioning gene. Simply stated it may be possible to “turn up" the output of a particular gene to bring about a desired effect. “The strategy is currently used in cancer research and other fields, but it hasn’t yet been applied to research on eye disease," says Dr. Thompson. “An important advantage is that we are promoting naturally occurring mechanisms to bring about a therapeutic result."
Specifically, Dr. Thompson studies the metabolism of vitamin A in the retina and the genetic defects that interfere with its delivery to or removal from the rods and cones. She is interested in the gene RDH12 and its mutations, which are known to affect this essential process. She has also discovered an anomaly: a mutation in this gene causes severe retinal degeneration in humans, but surprisingly, not in mice.
“Somehow the mice are compensating for the mutation. If we can identify that mechanism, it may be possible one day to replicate its action in humans," says Dr. Thompson. She has already identified several genes—closely related to RDH12—that she will investigate under the RPB grant. As she studies the role and function of these compensatory genes, she will also search for the mechanisms that regulate their expression.
“We still have a great deal to learn about the role of RDH12 in the visual cycle and about the factors that control gene expression," says Dr. Thompson. “Our long term goal is to move toward new therapeutic options for inherited retinal degenerations, and in directions not yet under development for this group of diseases."
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