Personalized Medicine Helps Girl Walk Again

Personalized Medicine Helps Girl Walk Again

This is the story of Shelby, a 12-year-old Phoenix girl who was wheelchair-bound for nearly a decade due to a rare disease of unknown cause. She had difficulty walking, talking, holding her head up, swallowing, and even breathing... but the key word in that description of Shelby is "had". Scientists at the non-profit Arizona research institute TGen sequenced Shelby's genome; something they couldn't have done in a reasonable amount of time or cost just five years ago. By sifting through the unique alterations in her data they were able to provide clues to the genetic basis of her rare disorder and empower her physician to prescribe a medicine based on this new information that resulted in changes to Shelby that were nothing short of a miracle. Today, she can talk and walk, even run, and is a 7th-Grade honors student.

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This is the story of Shelby, a 12-year-old Phoenix girl who was wheelchair-bound for nearly a decade due to a rare disease of unknown cause. She had difficulty walking, talking, holding her head up, swallowing, and even breathing... but the key word in that description of Shelby is "had". Scientists at the non-profit Arizona research institute TGen sequenced Shelby's genome; something they couldn't have done in a reasonable amount of time or cost just five years ago. By sifting through the unique alterations in her data they were able to provide clues to the genetic basis of her rare disorder and empower her physician to prescribe a medicine based on this new information that resulted in changes to Shelby that were nothing short of a miracle. Today, she can talk and walk, even run, and is a 7th-Grade honors student.