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The DIY Scientist, the Olympian, and the Mutated Gene

 

Jill Viles was always skinny. Her arms and legs had no fat, and as she grew, they also began to have less and less muscle tissue. Doctors checked her out, but had no diagnosis. So she did the research on her own. Because others in her family had curious body morphologies that weren’t as severe, she suspected a genetic condition. She even found a name for it: Emery-Dreifuss, but medical experts dismissed her self-diagnosis. When Viles answered a call to join a genetic research study in Italy, she couldn’t even get a doctor to do a DNA swab or a blood test -but she sent blood anyway. Four years later, she got confirmation of her self-diagnosis from Italy, just in time to save her father’s life. Viles also found out exactly which gene was affected. But that’s only the beginning of the story. Further research led Viles to pinpoint another rare genetic syndrome caused by mutations of the same gene (partial lipodystrophy) that caused loss of fat, and even led her to suspect it in an Olympic athlete she had seen photographs of. So she reached out to Canadian hurdler Priscilla Lopes-Schliep, who didn’t suffer from muscle atrophy, but instead has such amazingly well-defined muscles that she was suspected of doping.      

Priscilla thinks that because of her physique, she was targeted for more than the normal amount of drug testing. (Targeted testing is a standard part of anti-doping.) She was tested right after having her daughter, Natalia. At the World Championships in Berlin in 2009, she was tested just minutes before winning a silver medal. There’s not even supposed to be any drug testing that close to the race.

The following month, at a meet in Greece, someone stole her training journal out of her bag. It was at the very bottom, underneath expensive workout clothes and shoes, none of which were taken. Why steal a training journal?  We’ll never know. But I’ve covered a lot of doping stories, and I’m convinced someone thought the journal contained her steroid regimen.

The story of how Jill Viles pressed ahead with her research in spite of rejection from one medical expert after another is gripping, even when it gets really technical at the genetic level. Read how her determination saved more than one life, and may eventually lead to treatments for some rare genetic conditions. -via Digg


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