• The importance of genetic discovery

    Asked by CAS1 on Tuesday, March 26, 2013

    The importance of genetic discovery


    March 20, 2013

    Release Date: 03/18/2013

    Tool lets any clinician contribute information about patients for analysis
    A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene. As described in an article in the May issue of Human Mutation, the database, known as PhenoDB, enables any clinician to document cases of unusual genetic diseases for analysis by researchers at the Johns Hopkins University School of Medicine or the Baylor College of Medicine in Houston. If a review committee agrees that the patient may indeed have a previously unknown genetic disease, the patient and some of his or her family members may be offered free comprehensive genetic testing in an effort to identify the disease culprit.

    "PhenoDB is much more useful than I even thought it would be," says Ada Hamosh, M.D., M.P.H., a professo

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