NIH Expands Its Mystery Diseases Operations

While Princeton-Plainsboro is a fictitious teaching hospital that focused on diagnosing rare diseases on House, M.D., there are people suffering from such ailments.  The National Institutes of Health (NIH) has been growing its Undiagnosed Diseases Program (UDP) since 2008, and it just named six centers that will do the same kind of work currently available only at the NIH Clinical Center in Bethesda.  The centers were decided after   The program has been effective, and the expansion should be able to expand both the number of patients served and the breadth of diseases studied.

The UDP is supported by the National Human Genome Research Institute (NHGRI), and has seen approximately 750 patients in the last six years.  (This 2012 journal article provides a more detailed understanding of how the program functions.)  Genetics are not the exclusive focus of the program, which also analyzes clinical and cellular mechanisms behind these rare diseases.  Beyond discovery of cures and better understanding of the underlying disease mechanisms, study of abnormal conditions like these diseases can help inform how affected systems function normally.

Joining the Clinical Center in what is now the Undiagnosed Diseases Network are the Harvard teaching hospitals, Duke, Vanderbilt, Baylor, Stanford and the University of California, Los Angeles.  Harvard Medical School will serve as coordinating center. The Network will share information from the UDP with several public repositories.

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