September 21, 2016 – (CIRM) – “Cystinosis is a rare disease that usually strikes children before they are two years old and can lead to end stage kidney failure before their tenth birthday. Current treatments are limited, which is why the CIRM Board today approved $5.2 million for research that holds the possibility of a safe, effective, one-time life-long treatment. Cystinosis is caused by a genetic mutation that allows an amino acid, cysteine, to build up in and damage the kidneys, eyes, liver, muscles, pancreas and brain of children and adults. There is a Food and Drug Administration (FDA)-approved therapy, cysteamine, but this only delays progression of the disease, has severe side effects and people taking it still require kidney transplants, and develop diabetes, neuromuscular disorders and hypothyroidism. University of California, San Diego researcher Stephanie Cherqui, Ph.D. and her team think there is a better approach. Their goal is to take blood stem cells from people with cystinosis, genetically-modify them to remove the mutation that causes the disease, then return them to the patient. The hope is that the modified blood stem cells will create a new, healthy, blood system free of the disease.” Read Full Press Release