CRISPR/Cas9 Editing Used to Delete Dystrophin Gene Region in Which 60% of Mutations in Duchenne Muscular Dystrophy Occur; Deletion & Reframing Resulti in Functional Dystrophin Protein in Cell System

Scientists at the UCLA Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and Center for Duchenne Muscular Dystrophy at UCLA have developed a new approach that could eventually be used to treat Duchenne muscular dystrophy. The stem cell gene therapy could be applicable for 60 percent of people with Duchenne MD, which affects approximately 1 in 5,000 boys in the U.S. and is the most common fatal childhood genetic disease. The approach uses a gene editing technology called CRISPR/Cas9 to correct genetic mutations that cause the disease. The study, which was led by co-senior authors April Pyle, Ph.D., and Melissa Spencer, Ph.D., and first author Courtney Young, was published online on February 11, 2016 in the journal Cell Stem Cell. The article is titled “A Single CRISPR-Cas9 Deletion Strategy That Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells.” The researchers designed the approach to be useful in a clinical setting in the future. “This method is likely 10 years away from being tested in people,” said Dr. Spencer, Professor of Neurology in the UCLA David Geffen School of Medicine, Co-Director of the Center for Duchenne Muscular Dystrophy at UCLA, and member of the Broad Stem Cell Research Center. “It is important that we take all the necessary steps to maximize safety while quickly bringing a therapeutic treatment to patients in clinical trials.” Duchenne typically occurs through one mutation in a gene called dystrophin, which makes a protein with the same name. In people without the disease, the dystrophin protein helps strengthen and connect muscle fibers and cells.
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