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genetic diseases

Gene Editing in Dogs Boosts Hope for Kids with Muscular Dystrophy

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Dystrophin before and after treatment

Caption: A CRISPR/cas9 gene editing-based treatment restored production of dystrophin proteins (green) in the diaphragm muscles of dogs with Duchenne muscular dystrophy.
Credit: UT Southwestern

CRISPR and other gene editing tools hold great promise for curing a wide range of devastating conditions caused by misspellings in DNA. Among the many looking to gene editing with hope are kids with Duchenne muscular dystrophy (DMD), an uncommon and tragically fatal genetic disease in which their muscles—including skeletal muscles, the heart, and the main muscle used for breathing—gradually become too weak to function. Such hopes were recently buoyed by a new study that showed infusion of the CRISPR/Cas9 gene editing system could halt disease progression in a dog model of DMD.

As seen in the micrographs above, NIH-funded researchers were able to use the CRISPR/Cas9 editing system to restore production of a critical protein, called dystrophin, by up to 92 percent in the muscle tissue of affected dogs. While more study is needed before clinical trials could begin in humans, this is very exciting news, especially when one considers that boosting dystrophin levels by as little as 15 percent may be enough to provide significant benefit for kids with DMD.


Cool Videos: Myotonic Dystrophy

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Myotonic Dystrophy Video screenshot

Today, I’d like to share a video that tells the inspirational story of two young Massachusetts Institute of Technology (MIT) researchers who are taking aim at a genetic disease that has touched both of their lives. Called myotonic dystrophy (DM), the disease is the most common form of muscular dystrophy in adults and causes a wide variety of health problems—including muscle wasting and weakness, irregular heartbeats, and profound fatigue.

If you’d like a few more details before or after watching these scientists’ video, here’s their description of their work:  “Eric Wang started his lab at MIT in 2013 through receiving an NIH Early Independence Award. Learn about the path that led him to study myotonic dystrophy, a disease that affects his family. Eric’s team of researchers includes Ona McConnell, an avid field hockey goalie who is affected by myotonic dystrophy herself. Determined to make a difference, Eric and Ona hope to inspire others in their efforts to better understand and treat this disease.”

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