The title of this project has been changed to more accurately reflect the thrust of the science. We are studying the expression of specific gene products that could be related to hereditary diseases of the retina. If normal genetic control mechanisms fail, hereditary diseases of the retina such as retinoblastoma or retinitis pigmentosa will result. We have now developed new techniques to clone and sequence retina-specific genes at a higher efficiency. We have found several genes that are either expressed exclusively or predominantly in the retina and are using these as candidate genes in specific blinding diseases. Among these are hydroxy-O-methyl transferase, an important gene on the X chromosome involved in circadian control in the retina and a new gene mapping to chromosome 11q close to four important genetic retinal diseases. Similarly, we are investigating t properties of known retina-specific genes such as the interphotoreceptor retinoid-binding protein (IRBP) and their involvement in retinal disease processes. Progress has also been made in identifying apoptosis as a primary and unifying mechanism for cell death in several hereditary retinal degenerations. All these factors and processes could lead to more efficien gene therapy of the diseased neural retina.
