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Michael Boulton, Ph.D.
University of Florida
Gainesville, FL
Title:
Gamma-Secretase Dysregulation And The Pathogenesis Of AMD
Non-Technical Title:
Gamma-Secretase Abnormalities And The Progression Of Macular Degeneration
Duration:
April 1, 2009 - March 31, 2011
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Summary: We predict that abnormalities in a key enzyme involved in Alzheimer’s disease, gamma-secretase, render retinal pigment epithelial cells more susceptible to oxidative stress and blood retinal barrier breakdown and this contributes to the progression of age-related macular degeneration (AMD). We use in vitro (test tube) and in vivo (living) disease models to dissect the mechanisms by which gamma secretase regulates retinal pigment epithelium (RPE) function and determine how dysregulation of gamma secretase can lead to RPE dysfunction and cell death. Finally, we will use this knowledge to identify and test new therapeutic targets for the treatment of AMD.
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Program: Macular Degeneration
Award Type: Standard
$99,439
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Chi-Chao Chan, M.D.
The National Eye Institute
Bethesda, MD
Title:
Chaperone and Age-Related Macular Degeneration Model
Non-Technical Title:
Using mouse genetics to understand AMD
Duration:
April 1, 2007 - December 31, 2009
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Summary: These investigators have established a genetically distinct mouse lineage that develops many features similar to AMD. By studying these mice, the investigators hope to learn more about the causes of AMD and potentially suggest new therapies.
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Program: Macular Degeneration
Award Type: Standard
$100,000
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Dequan Chen, Ph.D.
Mayo Clinic
Rochester, MN
Title:
The gene structure of ARMS2/LOC387715 and its expression in human eyes
Non-Technical Title:
Gene structure and expression of ARMS2
Duration:
April 1, 2008 - March 31, 2010
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Summary: This study will examine a region of chromosome 10 that has been linked to AMD. This study seeks to identify all genes located in this region, and whether they are differentially expressed when AMD and non AMD eyes are compared.
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Program: Macular Degeneration
Award Type: Standard
$100,000
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Joseph Corbo, M.D., Ph.D.
Washington University, School of Medicine
St. Louis, MO
Title:
Identifying Cis-Regulatory Elements Around The ARMS2 Locus
Non-Technical Title:
Mapping The Genetic Causes Of Age-Related Macular Degeneration
Duration:
April 1, 2009 - March 31, 2011
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Summary: Recent genetics studies have delineated a 23.3 Kb region around the ARMS2 locus that contains DNA sequence variants that are strongly associated with a person's susceptibility to age-related macular degeneration (AMD). We propose to identify all of the photoreceptor-specific gene regulatory elements in this 23.3 Kb region and to test whether sequence variants within these regions found in AMD patients affect the activity of these elements. In this manner it should be possible to determine which sequence variants are likely to cause disease, thus facilitating the genetic diagnosis of AMD.
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Program: Macular Degeneration
Award Type: Standard
$100,000
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Douglas Dean, Ph.D.
University of Louisville Health Sciences Center
Louisville, KY
Title:
Multipotential Stem Cells In The Neonatal Mammalian Eye
Non-Technical Title:
Mouse Stem Cell Transfer In Eye Disease
Duration:
April 1, 2009 - March 31, 2011
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Summary: Adult lower vertebrates retain stem cells, show remarkable regenerative capacity and can repair damaged retina. Higher vertebrates, including adult humans, have limited stem cell capacity and cannot significantly repair damaged retina and retinal pigmented epithelial (RPE) tissues. This results in increased susceptibility to retinal injury and diseases such as age-related macular degeneration (AMD). AMD involves both degeneration of photoreceptors and RPE, and we have identified a population of multipotential stem cells in the neonatal mouse eye which we propose to test in cell transplant assays for their ability to replaced damaged RPE and photoreceptors.
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Program: Macular Degeneration
Award Type: Standard
$100,000
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Joshua Dunaief, M.D., Ph.D.
University of Pennsylvania
Philadelphia, PA
Title:
Preclinical Analysis Of The Iron-Binding Drugs SIH And BSIH For AMD
Non-Technical Title:
Could Iron-Binding Drugs Protect Vision In Patients With AMD
Duration:
April 1, 2009 - March 31, 2011
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Summary: The goal of this proposal is to determine whether the iron binding drugs SIH and BSIH, which are very effective in protecting cultured retinal cells, will be similarly protective in living animals. To this end, we will test the drugs in our Cp/Heph iron overload-induced model of AMD, which is a mouse that possesses a number of eye features in common with human AMD.
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Program: Macular Degeneration
Award Type: Standard
$100,000
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Jacque Duncan, M.D.
University of California, San Francisco
San Francisco, CA
Title:
Relationship Between Fundus Autofluorescence And Cell Survival
Non-Technical Title:
Why Vision Cells Die In Age-Related Macular Degeneration
Duration:
April 1, 2009 - March 31, 2011
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Summary: This project will ask whether autofluorescent lesions visible in the macula and genetic risk factors associated with age-related macular degeneration (AMD) correlate with vision loss and progression of disease severity. We will use multiple measures of retinal structure and function to measure disease severity and progression over 1 year. We will correlate these precise measures of AMD disease severity and progression with autofluorescent lesions and genes associated with increased risk of AMD.
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Program: Macular Degeneration
Award Type: Standard
$100,000
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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
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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.
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Program: Macular Degeneration
Award Type: Standard
$100,000
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Michael Gorin, M.D., Ph.D.
University of California, Los Angeles
Los Angeles, CA
Title:
Linkage and Association Studies for Macular Degeneration
Non-Technical Title:
Genetics of AMD
Duration:
April 1, 2006 - March 31, 2010
Co-Investigator(s):
Daniel Weeks, Ph.D.
University of Pittsburgh
Yvette Conley, Ph.D.
University of Pittsburgh
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Summary: We are investigating the genetic variations that contribute to ARM so that we can eventually understand the causes of this complex condition. We study the genetic variations that are shared among ARM-affected individuals within families as well as compare the frequencies of genetic variations in ARM-affected individuals with those in unaffected persons who are matched in age, gender, and exposures.
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Program: Macular Degeneration
Award Type: Standard
$150,000
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Jonathan Haines, Ph.D.
Vanderbilt University Medical Center
Nasville, TN
Title:
Genetic examination of AMD in the Midwestern Amish
Non-Technical Title:
Genetic studies of age-related macular degeneration in Amish communities of Ohio and Indiana
Duration:
April 1, 2008 - March 31, 2010
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Summary: By examining a population with a close community and genetic similarities, this proposal will seek to identify genetic risk factors that predispose a population to AMD.
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Program: Macular Degeneration
Award Type: Standard
$100,000