The major purpose of our work is to study the expression of specific gene products that could be related to hereditary diseases of the retina--more specifically, to determine normal genetic control mechanisms that fail and result in hereditary diseases such as retinitis pigmentosa or macular degeneration. To do this, we have developed new techniques to clone and sequence retina-specific genes at a higher efficiency. Several of these genes are either expressed exclusively or predominantly in the retina, and we are using these as candidate genes in specific blinding disease. The most promising genes are fatty acid-binding proteins that appear to be critical in lipid transport in the retina. Progress has also been made in identifying apoptosis as a primary and unifying mechanism for cell death in several hereditary retinal degenerations. Several genes such as TRPM-2/clusterin and heme oxygenase have also been characterized in the retina as factors that could help to protect retinal cells against insult and death. Use of these factors could lead to gene therapy of the diseased neural retina.
