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Macular Degeneration Research - Current Award

Photo Pending

Peter Francis, M.D., Ph.D.

Oregon Health and Science University
Portland, OR

Title: Genetic Studies Of A Nonhuman Primate Model For Age-Related Maculopathy
Non-Technical Title: Genetics Of Macular Degeneration In Monkeys

Duration: April 1, 2009 - March 31, 2011
Award Type: Standard
Award Amount: $100,000


Summary:

More complete understanding of the genetic risk factors for age-related macular degeneration (AMD) is essential to the development of better treatments that are optimized for the individual. Nonhuman primates provide a uniquely useful model for AMD because they have a macula, develop age-related maculopathy, and share with humans some of the same genetic risk factors for this disease. We propose to further define genetic factors in macular disease in a large monkey colony so that these animals can be used most effectively to test new therapies and prevention strategies.

Details:


Promising new treatments for age-related macular degeneration (AMD) are being developed, but we need to know if they are safe and effective before trying them on human patients. Animals are very valuable for this purpose, and monkeys are potentially the best model for AMD because they have the same kind of eye structure, and older monkeys develop AMD just like humans do. We have a unique, large colony of monkeys with many families that are prone to AMD, and we know that some of the same genes are involved in both their disease and human AMD. If we understand the genetics of their disease better and can define each monkey's genetic profile, these animals can be used to accurately test treatments and ways to prevent the disease, so that better treatments can be made available to patients.

The specific aims of the project are:

1) To examine monkeys with AMD for gene differences in a particular genetic region that is associated with risk for AMD in human patients.

2) To search for changes in six other genes that seem to be related to human AMD to see if they are linked to the risk of AMD in monkeys.

3) To find other new genes in monkeys that are associated with AMD, and also with a type of macular disease that starts early in life.

Progress Updates:

Age-related macular degeneration (AMD) is the leading cause of vision loss in the elderly. Animal models can be critical to understanding the causes of disease and testing new treatments, but the only research animals that have eyes with a macula like humans, are nonhuman primates (i.e. monkeys). We have screened a large colony of rhesus monkeys, and have shown that older members frequently develop characteristic signs of AMD. We have been examining their genetics to find genes 'linked' to AMD. We showed previously that two of the same genes that are associated with AMD in humans also are associated with the monkey version of the disease, and this was the first study to show that the two species have shared genetic factors for a common complex disease.

The purpose of our current study is to build upon these results and to investigate other AMD-associated genes in our well-characterized rhesus monkey population. We examined in detail one more gene, finding that in this case the same variation in the genetic code found in humans is not shared by rhesus monkeys. We looked for other variations, but did not identify any others that could cause the disease. In addition, we have documented a disease similar to AMD in a second species of monkey, the Japanese macaque, and are screening several genes for variations that may be linked to this disease. We are pursuing the hypothesis that these accurate animal models of AMD will lead to identification of new genetic factors and will strengthen the usefulness of these animals for development of effective preventative therapies.