Methods and compositions for prognosing and/or detecting age-related macular degeneration
AssigneeMassachusetts Eye and Ear Infirmary
InventorsMargaret M. DeAngelis, Margaux Morrison
Life of this patent
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Abstract
The invention is based, in part, upon the discovery of single nucleotide polymorphisms (SNPs) and haplotypes located in promoter and intronic sequences (e.g., intron 2) of the roundabout, axon guidance receptor, homolog 1 (ROBO1) gene that are significantly associated with age-related macular degeneration (AMD) risk. The invention relates to methods and compositions for determining whether an individual is at risk of developing age-related macular degeneration by detecting whether the individual has a protective or risk variant of the ROBO1 gene.
Claims40
A method for determining a subject's risk of developing age-related macular degeneration, the method comprising detecting in a sample obtained from the subject the presence or absence of an allelic variant at a polymorphic site in the ROBO1 gene that is associated with risk of developing age-related macular degeneration.
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Dependencies are inferred from the claim text.