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Investigating Treatment Options for a Genetic Disease

  Sample User Question Comments/Analysis Step By Step Guide Additional Tips  

Gaucher Disease is an example of a clinical condition that encompasses a continuum of clinical findings. The identification of the disease subtype is important in determining prognosis and treatment.

Sample User Question back to

What are the current treatment options for Type I Gaucher disease?

Comments / Analysis back to

Recent years have evidenced breakthroughs in the treatment and identification of Gaucher Disease. This is an example of how several resources may be efficiently consulted from hot links provided in one clinical resource for information on the most current treatment options.

Step By Step Guide back to top

  1. GeneTests - Presents a table that charts the different findings in the subtypes

    • Log in to GeneTests
    • Click on the GeneReviews button located on the top of the page
    • Enter Gaucher in search box and click on the "Search" button
    • Click on the green "Reviews" button
    • Review material provided
    • Note that in Table 1, "Molecular Genetic Testing Used in Gaucher Disease"; there is a link to available testing sites in the purple "Clinical Test"
    • Note that in the References section there is a MEDLINE button that retrieves a pre-selected set of MEDLINE bibliographic citations and abstracts

  2. OMIM - In August 2007 we note that the GeneReview was updated in November 2005 with revisions made to the management section. It may be prudent to consult MEDLINE and OMIM to ensure the latest information is not missed.

    • Click on the "Molecular Genetics" link in the side bar
    • Scroll down to the OMIM entries
    • Click on 230800 GAUCHER DISEASE, TYPE 1 to locate the OMIM entry

    Note that the Clinical Synopsis section was updated on 11/3/2006.

Additional Tips back to

Locating recent literature from one source

This search was conducted from one clinical resource, GeneReviews, using the hot links provided in the description of Gaucher to locate clinical testing laboratories, OMIM, and PubMed.

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Revised 08/05/2007