By Marina Wang

Researchers have successfully been able to cease the progression of Duchenne muscular dystrophy (DMD) in dogs using gene editing technology. The new study, published in Science, will hopefully pave the way for life-saving gene therapy to be used in humans.

DMD is the most fatal genetic disease in children, affecting one in 5,000 boys. It is caused by a genetic mutation on the X chromosome that prevents the proper production of dystrophin, a protein vital for muscle function. Patients with the disease suffer from muscle and heart failure, are confined to a wheelchair, and typically die prematurely in their early 30s. The cause of the disease has been known for decades but without a cure.

The researchers, from University of Texas Southwestern, used CRISPR gene editing in four dogs to target exon 51, one particular site that comprises the dystrophin gene. Dystrophin in muscle and heart tissue were increased to 92 per cent of normal levels, an exciting result according to experts.

“Children with DMD often die either because their heart loses the strength to pump, or their diaphragm becomes too weak to breathe,” said Dr. Eric Olson, Director of the Hamon Center for Regenerative Science and Medicine, in a press release. “This encouraging level of dystrophin expression would hopefully prevent that from happening.”

The next stages of the research will be to observe the canine patients to see if dystrophin levels remain stable over time and to observe if there are any side effects. The next big step would be clinical trials in humans, and the gene editing technology could lead to cures for other fatal genetic diseases.

“The success was really encouraging,” said Olsen.