Bioinformatics.org
[NEU MS in Bioinformatics]
Not logged in
  • Log in
  • Bioinformatics.org
    Membership (37462+) Group hosting [?]
  • Wiki
  • Franklin Award
  • Sponsorships
  • Careers
    About bioinformatics
    Bioinformatics training
    Bioinformatics jobs

    Research
    All information groups
    Online databases Online analysis tools Online education tools More tools

    Development
    All software groups
    FTP repository
    SVN & CVS repositories [?]
    Mailing lists

    Forums
    News & Commentary
  • Submit
  • Archives
  • Subscribe

  • Jobs Forum
    (Career Center)
  • Submit
  • Archives
  • Subscribe
  • News & Commentary - Message forums

    National Geographic: 'We Gained Hope.' The Story of Lilly Grossman's Genome
    Submitted by J.W. Bizzaro; posted on Thursday, March 14, 2013

    Submitter

    In this article about personal genome sequencing, Ed Yong (flavors.me/edyong) describes the effort to find a treatment for a young girl's mysterious health condition:

    "This U-turn in Lilly's fortunes was the result of a study called IDIOM, led by the father-and-daughter team of Eric and Sarah Topol at the Scripps Translational Science Institute in La Jolla, California. IDIOM stands for Idiopathic Diseases of Man – that is, 'serious, rare and perplexing health conditions that defy a diagnosis or are unresponsive to standard treatments'. In other words, whatever Lilly had.

    "The Scripps team sequenced Lilly, Steve and Gay's complete genomes. Amidst the morass of As, Gs, Cs and Ts, they identified the likely causes of Lilly's mystery condition – three mutations in two different genes. One of these pointed the way to a potential treatment – a drug called Diamox that had helped another family with a fault in one of the same genes. When Lilly tried it, she gained a few weeks of sound tremor-free sleep."

    SOURCE

    phenomena.nationalgeographic.com/2013[...]nome/

    Expanded view | Monitor forum | Save place

    Start a new thread:
    You have to be logged in to post a reply.

     

    Copyright © 2016 · Scilico, LLC