The Blog


Utilizing Gene Editing to Treat Duchenne Muscular Dystrophy

Scientists choose their research projects for a number of reasons.  For 3rd year doctoral student Courtney Young, her cousin’s Duchenne muscular dystrophy (DMD) diagnosis was a catalyst to her current work.  “I already knew I was interested in science, so after my cousin’s diagnosis, I decided to dedicate my career to finding a cure for Duchenne,” Young said. “It makes everything a lot more meaningful, knowing that I’m doing something to help all the boys who will come after my cousin. I feel like I’m contributing and I’m excited because the field of Duchenne research is advancing in a really positive direction.”

DMD is one of nine types of childhood muscular dystrophy affecting approximately 1 in 3500-5000 young boys. It is a genetic disorder characterized by progressive muscle degeneration and weakness. Patients have a 20 year average life expectancy. 

DMD is typically caused by mutations in dystrophin that leads to abnormally low production of dystrophin protein and weakened muscle cells.  As first author on a recent publication in the journal Cell Stem Cell, Young described how she and colleagues used CRISPR/Cas9 genome editing of induced pluripotent stem cells (iPS) derived from DMD patient skin cells to excise the mutation.  They then induced the edited cells to differentiate into heart and skeletal muscle cells and found that dystrophin production was increased and the cells were strengthened.  The dystrophin appeared to function normally when the edited cells were transplanted into the muscles of mice with DMD.  This study is the first to create corrected human iPS cells to restore functional muscle tissue affected by DMD.

As a next step, the UCLA team plans to extend their findings to treat the disease in animals, continuing on to FDA approval for clinical trials and use in humans. 

To learn more about Young and co-senior authors April Pyle and Melissa Spencer’s study, you may also view the UCLA Newsroom article or LA Times article.  

Image: Pyle, Young, and Spencer, UCLA Broad Stem Cell Research Center