Can CRISPR Save Ben Dupree?

October 17, 2016
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At 24, Benjamin Dupree has outlived many people with Duchenne muscular dystrophy. It was diagnosed 15 years ago, after he struggled to get up the stairs without using the banister. Doctors say the disease is terminal, but they tell you less about living with it. About the girls who don’t see past your wheelchair, or how the phone stops ringing. It’s you and Mom counting the birthdays and figuring out what you can’t do this year. Dupree says he got by in high school, but in college depression gripped him. “I didn’t know how I could keep going,” he says.

The problem is that Dupree’s body doesn’t make dystrophin, a protein in muscle fibers that acts like a shock absorber. Without it, your biceps, calf muscles, and diaphragm slowly turn to a fatlike substance. You end up on a ventilator, and then your heart stops. Dystrophin is manufactured by a gene that is not only the largest in the human genome but the largest anywhere in nature. It consists of 79 components known as exons, each an instruction for one ingredient of the protein. Dupree’s problem, he told me, is a “pseudo” exon—it’s as if in the middle of this epic recipe someone had added a mistaken instruction that read, “Stop the cooking.” There are thousands of ways a gene this size can go wrong, and Dupree’s mutation—a single letter of DNA that reads ‘G’ instead of ‘T’—is unique, so far as scientists know.

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Image: via wikipedia

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