According to a story from Fierce Biotech, the results of a year-long study examining the utility of the groundbreaking gene-editing technology CRISPR in treating the rare genetic disorder Duchenne muscular dystrophy are looking very promising. In an agreement between Duke University and Sarepta, the company agreed to support research from the university that was aimed at trying to cure Duchenne muscular dystrophy using CRISPR.
About Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a neuromuscular disease, and it is one of the more severe types of muscular dystrophy. It is characterized by progressive muscle weakness that usually begins around age four and worsens quickly. As an X-linked genetic disease, boys are mostly affected, with girls only occasionally displaying mild symptoms. The disease is caused by mutations of the dystrophin gene. Symptoms of Duchenne muscular dystrophy include falling, abnormal walking posture, eventual loss of walking ability, muscle fiber deformities, intellectual disability (not in all cases), enlargement of the tongue and calf muscles, skeletal deformities, muscle atrophy, heart abnormalities, and difficulty with breathing. Treatment includes a variety of medications and therapies that can help alleviate symptoms and slow disease progression. Lifespan is usually into the thirties with good care. Better treatments for this disease are urgently needed. To learn more about Duchenne muscular dystrophy, click here.
About The Research
Dr. Charles Gersbach led the Duke research team. The scientists recently supported that a single CRISPR treatment was able to correct the disorder for over a year in a mouse model of Duchenne muscular dystrophy. It is worth noting that the mice did have an immune response to the Cas9 enzyme which CRISPR utilizes, but the animals’ overall health was not affected by this.
Is CRISPR The Future of Genetic Medicine?
The amazing potential of CRISPR lies in its ability to modify and edit genes. In patients with the disorder, the gene that is responsible for the production of dystrophin, a protein that is vital for maintaining the structural integrity of muscle tissue, is mutated and does not function properly. Dystrophin is comprised of 79 exons. In the study, the scientists used CRISPR to get rid of the exons that did not function normally. Then the remaining DNA material was repaired.
Despite the fact that the dystrophin gene is shortened, it is still capable of producing dystrophin after the modification. The results of this study bode well for the future of CRISPR in treating genetic disorders like Duchenne muscular dystrophy; if this technology continues to perform well, patients born with the disease could have a real shot at being cured.