In the early nineties, little was known about macular degeneration and there was limited interest in supporting research on AMD and retinal diseases, despite their growing prevalence. Now, much more is known, thanks in large part to our work. Important discoveries have been made in vision research and our funding is focused on the most promising frontiers.
- Anatomy of AMD
- Therapeutic Trials
- Genetic Research
- Gene Therapy
- Stem Cell Research
THE ANATOMY OF AMD
Work is being done to build our understanding of the genetic and biological structure of AMD and the possible role of factors as abnormal lipoproteins, Muller cell mutation, oxidative stress (often a precursor to cancer and other diseases), abnormalities of retinal pigmentation, and the degeneration of the photoreceptors in the retinae.
Studies are currently underway to determine if increasing the intake of lutein, a nutrient concentrated in the human macula, can slow or reverse AMD. Other promising areas of exploration include attempts to slow or suppress the visual cycle, which occurs inside the retina when a photon is converted into an electrical stimulus. In 2013, the FDA approved the first retinal prosthesis to treat retinitis pigmentosa. The application of such devices for those with AMD represents an avenue of great hope.
An international team of researchers, funded in part by MVRF, recently identified a genetic variant that increases risk for development macular degeneration. This discovery linked inflammation and the immune response to the origination of AMD. This new research, once confirmed by other investigators, could lead to new directions in the prevention and treatment of macular degeneration.
Gene therapy has been an area of great promise as a therapeutic treatment for macular degeneration. In 2008, the first clinical trials for a genetic disease known as LCA2 were started by three groups, two of which were funded in part by MVRF. Early studies have shown that this treatment is safe, and, in nearly all cases, resulted in the partial restoration of vision in the treated eye. To date, the improved vision resulting from the gene therapy treatment has been sustained without adverse reactions.
STEM CELL RESEARCH
A potential powerful approach to recover vision in individuals with vision loss from retinal degenerative diseases is to regenerate photoreceptors and/or retinal pigment epithelial (RPE) cells. MVRF is funding a number of studies exploring the application of stem cells as a means to regenerate photoreceptor and RPE cells that are lost as a result of retinal degenerative diseases. In one current study, efforts are underway to reprogram human RPE stem cells into photoreceptor cells for transplantation.