August 17, 2017
In 1990, a British muscular dystrophy researcher, Kay Davies, described the unusual case of a 61-year-old man who by rights should not have been alive, based on what was known of the disease at that time.
The muscle wasting disease is caused by mutations to the dystrophin gene. Even just one wrong genetic letter can mean early death. Remarkably, the man Davies described was missing 46 percent of the gene. Yet there he was, still walking with the aid of a stick in his seventh decade.
Now that 27-year-old discovery is leading to what could be the best chance to treat—and maybe stop—a serious form of the disease, Duchenne muscular dystrophy.
MIT Technology Review
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