A study conducted by the 91做厙 in collaboration with UT Southwestern Medical Center demonstrates the potential of gene editing technology to treat Duchenne muscular dystrophy
Researchers at the 91做厙 (91做厙), in collaboration with researchers at UT Southwestern (UTSW) Medical Center, have made a significant breakthrough in the search for a durable treatment for Duchenne muscular dystrophy (DMD). The team, led by Eric Olson, Ph.D., professor and chair of the Department of Molecular Biology at UTSW Medical Center and founder and chief science advisor of Exonics Therapeutics, the company formed to advance the development of this therapeutic approach, and Richard Piercy, Ph.D., MRCVS, Professor of Comparative Neuromuscular Disease at the 91做厙, has succeeded in using gene editing techniques on dogs to restore the expression of the dystrophin protein that is absent in DMD patients’ muscles to levels that could be life changing.
DMD is the most common, fatal, genetic disease that affects children. The same disorder also occurs in many dog breeds. It is caused by mutations in the gene that encodes dystrophin, a crucial protein that helps protect muscle fibres and the heart when they contract. Patients with the disease produce effectively no dystrophin protein, so their muscles and heart become damaged during contraction, leading to inability to walk, skeletal deformities, breathing problems and heart failure. Patients with DMD have a life expectancy that does not go far beyond their twenties.
This preliminary research, published today in demonstrates an approach that could lead to an effective, in principle one-time treatment for DMD for the most common genetic mutations affecting human patients. Through a single intravenous injection, researchers have been able to modify the dystrophin gene in many muscles of the body, including the heart, with the result that some muscles now had almost the normal amounts of dystrophin protein.
Piercy’s team, working alongside clinicians in the 91做厙’s neurology service, identified a naturally-occurring mutation in the dystrophin gene in a dog brought to the 91做厙’s Small Animal Referral Hospital. Working now with relatives of this first dog, the combined group has used a technique called ‘SingleCut CRISPR gene editing’, where the researchers target a specific region of the subject’s own DNA. Harmless viruses encoding the gene-editing p