RESOURCES: Keeping Tabs on Rare Diseases

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Science  11 Nov 2005:
Vol. 310, Issue 5750, pp. 949
DOI: 10.1126/science.310.5750.949b

Doctors have recorded only about 100 cases of Kabuki syndrome, a congenital form of mental retardation. The condition got its name because patients' facial features—including arched eyebrows and elongated eye openings—resemble the makeup style in Japanese Kabuki theater. At Orpha.Net, you can find out more about Kabuki syndrome and hundreds of other disorders affecting no more than one person out of 2000. Researchers can search for information on a particular disease and pull up a description of the symptoms and underlying cause. The entries also record orphan drugs, treatments for rare diseases that are unprofitable to manufacture, and link to research projects and clinical trials around the world. The site, which has information in six languages, is sponsored by the European Commission, the French government, and other organizations.

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