CIRM grant will fund novel gene therapy aiming for one-time, lifelong treatment of Friedreich’s ataxia, a progressive neuromuscular disorder; second CIRM grant will advance efforts to leverage UC San Diego research on another rare disease
By Scott LaFee – UC San Diego
Friedreich’s ataxia (FA) is an inherited, degenerative neuromuscular disorder that initially impairs motor function, such as gait and coordination, but can lead to scoliosis, heart disease, vision loss and diabetes. Cognitive function is not affected. One in 50,000 Americans has FA.
“It’s a terrible disease with no treatment,” said Stephanie Cherqui, PhD, associate professor in the Department of Pediatrics at UC San Diego School of Medicine. “It’s a progressive disorder that leads to loss of motor skills and muscle degeneration, and ultimately inability to walk within 10 to 15 years of onset. Heart abnormalities can also cause premature death. The average age of death is usually in the mid-thirties.”