“Molecular Genetics of Retinal Degeneration”: Emily Schindler Monday (1.Feburary) at 11:00 in 2117 MERF
Heritable retinal degenerations dramatically affect individuals across the lifespan. Heritable degenerations with onset in childhood or young adulthood, such as the ABCA4-associated retinopathies (OMIM, ABCA4), generally obey Mendelian segregation and are usually attributable to high penetrance mutations within a single gene. Heritable retinal degenerations with onset in late adulthood, such as age-related macular degeneration, are usually influenced by a constellation of genetic and environmental factors. This thesis applies several complementary, high-throughput genotyping platforms to identify relationships between specific heritable retinal phenotypes and genetic variation. The findings of this thesis will help physicians refine their prognoses based on genetic information and determine which patients are best suited for inclusion in clinical trials of novel therapies.