Gene-Editing Technique May Treat Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a devastating diagnosis. Symptoms — muscle weakness, frequent falls — start as early as toddlerhood. By the early teen years, children with this muscle-wasting disease are often unable to walk. By their early 20s, they typically struggle to breathe. The life expectancy is only about 25, according to the U.S. National Library of Medicine.

Now, a revolutionary new gene-editing technique offers hope for a cure. Scientists from three separate research groups have halted Duchenne muscular dystrophy in mice. The method uses a bacteria-derived genetic tool called CRISPR/Cas9 to snip out a mutation in the gene for dystrophin, a protein that gives muscles their structure. With the mutation gone, the gene can produce a truncated version of dystrophin, restoring muscle function to Duchenne muscular dystrophy patients.

“We believe this approach will be translatable into the clinic, giving us the tools to correct this disease,” says Rhonda Bassel-Duby, a professor of molecular biology at the Univ. of Texas (UT) Southwestern Medical Center who was involved in one of three studies on CRISPR/Cas9 and Duchenne muscular dystrophy.

There are safety and efficacy issues to address before the method can be tested in humans. But each of the three studies found promising results in mice after one-time treatments.

CRISPR/Cas9 was discovered in the late 1980s, when researchers noticed DNA sequences in microbes that they dubbed “clustered regularly...