Methods and reagents for treatment and diagnosis of vascular disorders and age-related macular degeneration
AssigneeUniversity of Iowa Research Foundation
InventorGregory S. Hageman
Life of this patent
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Abstract
Disclosed are screening methods for determining a human subject's propensity to develop a vascular disorder and/or age-related macular degeneration (AMD), therapeutic or prophylactic compounds for treating disease or inhibiting its development, and methods of treating patients to alleviate symptoms of the disease, prevent or delay its onset, or inhibit its progression. The inventions are based on the discovery that persons with a genome having a deletion of the CFHR-1 and/or CFHR-3 gene, which normally lie on human chromosome 1 between DNA encoding CFH and CFHR-4, are at reduced risk of developing AMD, and elevated risk of developing vascular disease such as aneurysm.
Claims30
A screening method for determining a human subject's propensity to develop an abdominal aortic aneurysm and/or age-related macular degeneration (AMD) comprising:
- analyzing a biological sample from the subject to detect the presence or absence of a deletion of at least 1000 bp in the region of chromosome 1 between the 3′ end of exon 22 of the complement factor H (CFI-1) gene and the 5′ end of exon 1 of complement Factor H-related 4 (CFHR4) gene
- wherein the presence of a deletion indicates the subject is at increased risk of developing an abdominal aortic aneurysm and is at decreased risk of developing AMD.
A screening method for determining a human subject's propensity to develop age-related macular degeneration (AMD) and/or abdominal aortic aneurysm (AAA) comprising analyzing the subject's genome to detect the presence or absence of a deletion of at least 10,000 bp in the genomic sequence encoding CFHR1 and/or CFHR3, wherein the presence of said deletion indicates the subject is at increased risk of developing an abdominal aortic aneurysm and is at decreased risk of developing AMD.
Dependencies are inferred from the claim text.