Scientists have been researching the potential life-saving CRISPR[1] gene editing process for persons suffering from Duchenne muscular dystrophy (DMD). Previously, researchers found success in correcting DMD mutations in mice and human cells. The latest research applied the same technique in four dogs that shared the type of mutation most commonly seen in DMD patients. The research published in Science documents unprecedented improvement in the muscle fibers of dogs with DMD — the most common fatal genetic disease in children, caused by a mutation that inhibits the production of dystrophin, a protein critical for muscle function.
This breakthrough brings hope to patients for whom no effective treatment exists. DMD affects 1 out of 5,000 boys, leading to muscle and heart failure, and premature death by the early 30s. Patients are forced into wheelchairs as their muscles degenerate and eventually onto respirators as their diaphragms weaken. No effective treatment exists, though scientists have known for decades that a defect in the dystrophin gene causes the condition.
“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 UT Southwestern’s Hamon Center for Regenerative Science and Medicine. “This encouraging level of dystrophin expression would hopefully prevent that from happening.”[i]
The Science study establishes the proof-of-concept for single-cut gene editing in dystrophic muscle and represents a major step toward a clinical CRISPR edited the exon, and within several weeks the missing protein was restored in muscle tissue throughout the body, including 92 percent correction in the heart and 58 percent in the diaphragm, the main muscle needed for breathing.
Scientists are encouraged, however, there is more work to be done before the technology is used clinically. The lab will next conduct longer-term studies to measure whether the dystrophin levels remain stable and to ensure the gene edits do not have adverse side effects. Dr. Olson hopes the next step beyond dogs is a clinical trial, which would be among several that UT Southwestern’s gene therapy center aims to launch in the coming years to address numerous deadly childhood diseases.
Let’s pin our hopes on fast paced follow-through research!
[1] CRISPR is an innovative new technology that manipulates DNA to potentially discover cures to HIV, genetic diseases, and some cancers. Because gene manipulation could have serious consequences, there is controversary regarding the ethical and societal repercussions of intentionally mutating embryos to create “better” humans.
[i] Science Daily; CRISPR halts Duchenne muscular dystrophy progression in dogs: August 30, 2018; https://www.sciencedaily.com/releases/2018/08/180830143205.htm
Additional Sources:
Rhonda Bassel-Duby, Richard J. Piercy, Eric N. Olson. Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Science, 2018; eaau1549 DOI: 10.1126/science. aau1549
2018 Aspen Ideas Festival; https://www.aspenideas.org/session/crack-creation-gene-editing-and-unthinkablepowercontrolevolution?gclid=Cj0KCQiAn4PkBRCDARIsAGHmH3d9cpZhglhGXVMlIFtJmS_pWvrlSbxod4mA8dteyNkDoBExOlLl1cEaAu6jEALw_wcB