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Discovering new diseases with the internet: How to find a matching patient

Search for items with the same title. Is your work missing from RePEc? Here is how to contribute.


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Ask if the c. Use both medical terminology human phenotype ontology HPO to describe symptoms as well as corresponding terms that parents and patients are likely to use instead.

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Describe the history of the condition from birth, including all suggested diagnoses, and all attempted and current treatments, procedures and medications. Include both abbrevations and expansions of medical terms; for example: Make it easy to get in contact: Listing an email address and a phone number and including a web contact form at the top and bottom of the page will help.

Include the names of suspected genes in the title, in the header and in the body of the web site.

Gene names are the most important for Internet-based matchmaking. Including pictures, especially if there are dysmorphic features, will assist in confirming matches. Answers for Tess - USP7. Inserting an entry about the possible clinical signifance of the gene that references your site will increase the chance that a patient, parent or researcher searching for the same gene will find your site.


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  • User Ruraldreams created a guide to posting about rare disease on wikipedia. Remember to update Wikipedia when you confirm the disease: Google alerts provide a way to be continuously searching the interet for a given term. Set a Google alert for all gene names of interest, the specific variants of interest and all rare symptoms.

    Buying Google AdWords on the name of the gene and especially rare symptoms is a reasonable strategy for patient-finding, especially given that gene names and rare symptoms should be cheap AdWords. Dating websites and more, is signed up a 2.

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