Methods and compositions for detecting and treating retinal diseases

• Main Authors: INANA GEORGE, MCLAREN MARGARET JEAN
• Format: Patent
• Language: English
• Published: 20.09.2012
• Subjects: AGRICULTURE; ANIMAL HUSBANDRY; BEER; BIOCHEMISTRY; CARE OF BIRDS, FISHES, INSECTS; CHEMISTRY; COMPOSITIONS THEREOF; CULTURE MEDIA; ENZYMOLOGY; FISHING; FORESTRY; HUMAN NECESSITIES; HUNTING; HYGIENE; MEDICAL OR VETERINARY SCIENCE; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; NEW BREEDS OF ANIMALS; PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS; SPIRITS; TRAPPING; VINEGAR; WINE

The invention discloses multiple genes related to age-related macular degeneration (AMD) and/or phagocytosis by RPE cells of the eye, and methods and compositions for detecting and treating AMD and other retinal degenerative conditions based on these phagocytosis-related and/or AMD-related genes. Also provided are nonhuman transgenic animal models useful for testing therapeutic compounds and treatment protocols for AMD, and gene arrays including polymorphic variants of phagocytosis-related and/or AMD-related genes, useful for genetic screening of nucleic acid samples from subjects to obtain profiles of polymorphic variant sequences in a plurality of genes associated with AMD. Several preferred embodiments of the therapeutic compositions and animal models are based on target genes MT1-MMP and casein kinase 1 epsilon (CK1 ), phagocytosis-related genes found to be over-expressed in human donor eye samples from patients having both wet and dry forms of AMD.