Stem Cell Research

The vision loss in Choroideremia is caused by the progressive death of specific cells in the retina which are responsible for creating vision.  Restoring lost vision requires replacing those cells, and stem cells are a potential candidate for creating transplants to place into these affected areas.

Stem cells are referred to as progenitor cells, which means they can develop into almost all other cells in the body.  Historically, stem cells were only obtained from embryos which created significant controversy.  However, recent developments have enabled scientists to take a blood or skin sample from an individual and create stem cells from these tissue samples.  These stem cells, referred to as IPs cells, can then be influenced to evolve into other cell types in the body by following specific scientific protocols.  With these techniques, scientists can use IPs cells to create specific retinal cells, called photoreceptors and retinal pigment epithelium (RPE) cells, which are the cell types lost in Choroideremia.  Scientists are currently working to organize these IPs-derived photoreceptors and RPE cells into transplant patches which could be used to replace areas of vision loss.

In addition, stem cells can be used for scientists to learn more about Choroideremia and test future therapies.  By creating IPs cells from Choroideremia patients, scientists can study the disease in their laboratory and learn more about its progression at a microscopic level.  This information can help scientists to better understand the natural history of Choroideremia in conjunction with tests done at the doctor’s office.  In addition, future treatments can be tested on these IPs cells rather than on animal models of Choroideremia which may not respond in the same way as humans.

Researchers

Dr. David Gamm

Dr. Michael Young