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Macular Degeneration Research - Current Award

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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
Award Type: Standard
Award Amount: $100,000


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.

Details:


DNA changes that can predispose patients to age-related macular degeneration (AMD) come in two varieties: those which affect sequences that encode proteins (so-called, 'coding' changes) and those which affect sequences that control the expression of genes ('non-coding' changes). Although a lot is known about 'coding' changes, 'non-coding' changes are relatively poorly understood. Our research aims to develop a better understanding of the effects of 'non-coding' changes on a person's susceptibility to AMD. We plan to first map the location of 'cis-regulatory elements' which control the expression of genes relevant to AMD. Then, we will determine which DNA changes found in AMD patients are associated with changes in the expression of these AMD genes. Once we have successfully completed this research, we should be able to more accurately diagnose AMD and predict which patients are likely to be affected by it by being able to more precisely map the effects of their DNA changes on AMD gene expression. The financial support of the American Health Assistance Foundation is critical to furthering our understanding of this devastating disease.

Progress Updates:

A short region of human chromosome 10 (a unit of the human genome) has recently been shown to be involved in the development of age-related macular degeneration (AMD). Patients who carry certain DNA changes in this region have an increased likelihood of developing AMD. Over the past year our lab has taken a combined computational and experimental approach to clarify the functional nature of this region of chromosome 10 which contains two genes, ARMS2 and HTRA1. We have identified DNA regions around these genes which control the expression of HTRA1 in certain cells within the retina. These DNA regions are known as cis-regulatory elements. We believe that DNA changes in these cis-regulatory elements may predispose patients to AMD by changing the expression of the HTRA1 gene. In the coming year, we will continue to study these cis-regulatory elements and test whether patient-specific changes in these elements can change HTRA1 expression. In this way, we hope to obtain a better understanding of the DNA changes that underlie predisposition to AMD.