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Call in the backup

Nature Medicine volume 18, pages 1602–1605 (2012)Cite this article

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A Correction to this article was published on 06 February 2013

This article has been updated

The most common genetic killer of infants, a disease known as spinal muscular atrophy, is caused by mutations in a single gene. The human genome contains its own backup system—near-identical copies of the defective gene—yet these secondary sequences rarely get used correctly. As Elie Dolgin finds out, drug companies hope to change that, with the first wave of targeted therapies that reboot the body's backup system now entering clinical trials.

For a three-year-old with a hereditary neuromuscular disease, the fine motor skills in Vivienne's fingers are surprisingly refined. And as she talks to her parents, switching effortlessly between English, Polish and German, it's clear that she's exceptionally bright. But Vivienne's condition betrays itself as she attempts to pile the blocks higher. Her shoulders bunch up. Her arms strain under their own weight.

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Change history

  • 11 January 2013

     The article entitled "Call in the backup" in the November 2012 issue (Nat. Med. 18, 1602–1606, 2012) misspelled Rajesh Ranganathan's first name as Rajan. The error has been corrected in the HTML and PDF versions of the article.

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  1. Elie Dolgin is a news editor with Nature Medicine in Cambridge, Massachusetts.

    Elie Dolgin

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  1. Elie Dolgin
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Dolgin, E. Call in the backup. Nat Med 18, 1602–1605 (2012). https://doi.org/10.1038/nm1112-1602

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  • DOI: https://doi.org/10.1038/nm1112-1602

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