TITLE: Using genomics to define the pathogenesis of primary open angle glaucoma — a complex eye disease.

SYNPOSIS: Primary open-angle glaucoma is the 2nd leading cause of irreversible blindness in the Western world. Prior to 2010, the disease was defined by clinical features of variably elevated intraocular pressure and progressive optic nerve degeneration.  Genetics were felt to play an important role in POAG but Mendelian approaches yielded only limited insights into this disorder. The genomics revolution has helped to define the genetic landscape for POAG and has helped identify viable endophenotypes for this condition. Furthermore genomic advances are defining genetic risk factors for the glaucoma related phenotypes of intraocular pressure and optic nerve features.  Finally advances in genetics have led to new insights regarding gene-environment interactions in POAG as well as a new murine model that mimics the human disease. As we enter into next generation sequencing, it is hoped that we will have a glaucoma genomics risk calculator that identifies at-risk people before they develop visual signs of glaucoma.  Ultimately, it is hoped the genomics revolution will identify novel therapeutic and preventative strategies to reduce the burden of blindness from POAG.

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