Word: shoffner
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Dates: during 2006-2006
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...Asher's parents--Anne Reckling, a child psychologist, and David Gould, an administrator at a private school in Columbus, Ohio--were determined to get to the bottom of it. On the urging of someone on a myopathy e-mail discussion list, they went to see Dr. John Shoffner, a neurologist and geneticist at Horizon Molecular Medicine, a private group in Atlanta. A few weeks later, a fax arrived with Shoffner's diagnosis. Asher was suffering from a type of mitochondrial disease...
...term is unfamiliar, that's no surprise. "When I began working on mitochondrial disease back in the '80s," says Shoffner, "people were still arguing over whether it even existed." Nobody is arguing about that anymore. In fact, doctors have now identified hundreds of different subtypes of the disorder. What they all have in common is a malfunction of the mitochondria--tiny substructures, or organelles, found inside every cell in the body. Their job is to convert food into a chemical called ATP that cells use for energy. When they go bad, all sorts of havoc is wreaked on the body...
There's no cure yet for mitochondrial disease, nor even a surefire treatment. Sufferers are usually given vitamin and nutritional supplements, which can help slow the progress of the illness, but they aren't always effective. "If you'd asked me a year ago," says Shoffner, "I would have said that's the only option." Since then, however, some promising drugs have been developed, and will soon go into clinical trials. And a new company called Edison Pharmaceuticals, of San Jose, Calif., was founded last year for the sole purpose of coming up with drugs for mitochondrial disease...
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