Genes and polymorphisms associated with amd
OwnerGregory S. Hagemaninventor
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Abstract
The invention relates to genes, gene polymorphisms, and genetic profiles associated with an elevated or a reduced risk of alternative complement cascade deregulation disease such as AMD. The invention provides methods and reagents for determination of risk, diagnosis and treatment of such diseases. In an embodiment, the present invention provides methods and reagents for determining sequence variants in the genome of a patient which facilitate assessment of risk for developing such diseases.
Claims22
A method of screening for susceptibility to complement dysregulation in an individual comprising screening for the presence or absence of a genetic profile characterized by polymorphisms in the genome of the individual associated with complement dysregulation, wherein the presence of a said genetic profile is indicative of the individual's risk of complement dysregulation, wherein the genetic profile comprises at least one polymorphism selected from Table I or Table II.
A method for determining an individual's risk for development or progression of age-related macular degeneration (AMD) comprising screening for the presence or absence of a risk profile characterized by polymorphisms in the genome of the patient associated with risk for developing or with protection against developing AMD in genomic regions selected from at least one gene selected from Table I or II, and combinations thereof, wherein the presence of a said risk profile indicates that the patient has or is at risk of developing AMD.
A detectably labeled oligonucleotide probe for hybridization with a genomic region of said patient for identification of the base present in said region at said polymorphism, wherein the genomic region is selected from at least one gene selected from Table I or II.
(canceled)
A method for treating or slowing the onset of AMD, the method comprising prophylactically or therapeutically treating a patient identified as having a risk profile characterized by polymorphisms in the genome of the patient associated with risk for developing or in genomic regions selected from at least one gene selected from Table I or II, and combinations thereof, wherein the presence of a said risk profile indicates that the patient has or is at risk of developing AMD.
(canceled)
Dependencies are inferred from the claim text.