Year 1

Inherited retinal degenerations result in visual loss in patients early in life. Retinitis Pigmentosa, a form of inherited retinal degeneration, affects thousands of patients in US and in the state of California. The second most common gene whose mutation results in retinitis pigmentosa is RP1. How mutation in the gene result in loss of vision is not completely clear and we are working of gaining a better understanding of this by creating a 3D artificial retina in a dish. This invloved using stem-cell derived eye cells grown on patterned articifical scaffolds.
In our initial year of funding, we have improved our methodologies to make the various cells that make up the retina in the dish and are working on optimizing the generation of scaffolds. These scaffold will allow us to generated a retina, the light-sensing layer of the eye, in a dish. We have also over the course of the year generated stem cell lines using patient cells. Using the recent state-of-the-art technologies to convert patient cells to stem-cells, we have been able to convert blood cells to stem cells and then reconverted them to cells in the eye. We will now use these cells to better understand the degeneration and vision loss in the second year of the grant.