Methods and Reagents for Treatment and Diagnosis of Vascular Disorders and Age-Related Macular Degeneration

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.

1 . A screening method for determining a human subject's propensity to develop a vascular disorder and/or age-related macular degeneration (AMD) comprising:
 analyzing a biological sample from the subject to detect the presence or absence of a deletion in the region of chromosome 1 between the 3′ end of exon 22 of the complement factor H (CFH) 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 a vascular disorder and is at decreased risk of developing AMD.   
     
     
         2 - 44 . (canceled)