Stem Cells Correct Genetic Cause of Blindness

A team led by Jason Meyer, from Indiana University-Purdue University (USA) has utilized stem cell technology to correct a genetic defect present in a rare blinding disorder, another step on a promising path that may one day lead to therapies to reverse blindness caused by common retinal diseases such as macular degeneration and retinitis pigmentosa which affect millions of individuals. The team engaged recently developed technology to generate induced pluripotent stem (iPS) cells from a human patient with an uncommon inherited eye disease known as gyrate atrophy. This disorder affects retinal pigment epithelium (RPE) cells, the cells critical to the support of the retina's photoreceptor cells, which function in the transmission of messages from the retina to parts of the brain that interpret images. "When we generate iPS cells, correct the gene defect that is responsible for this disease, and guide these stem cells to become RPE cells, these RPE cells functioned normally. This is exciting because it demonstrates we can fix something that is out of order. It also supports our belief that in the future, one might be able to use this approach for replacement of cells lost or malfunctioning due to other more common diseases of the retina," observed lead author Dr. Meyer.