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The Search for a Muted Gene

8 minutes 54 seconds
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Teenage boy looks into an eye exam machine while the hand of a person off camera touches a button on a small screen next to a computer. Caption. It is caused by a change, or a mutation, in a gene.

Just before his sophomore year in college, Sam Walker was diagnosed with retinitis pigmentosa (RP), which can be caused by mutations in one of over 100 known genes. Dr. Ed Stone set out to identify the specific mutation affecting Sam with the hope of devising a treatment for him. Having identified the likely root of Sam’s RP, Dr. Stone can now devise a gene therapy to stop disease progression.

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