Abstract
The NIH Undiagnosed Diseases Program (UDP), supported by the Office of Rare Diseases Research, the National Human Genome Research Institute (NHGRI), and the NIH Clinical Center, was established to diagnose patients who have long sought a diagnosis, and to discover new diseases and insights into their physiology, cell biology, and biochemistry. Since its inception in May of 2008, the UDP has reviewed more than 1300 medical records, seen over 250 patients, and made approximately 30 diagnoses. The Program provides hope to a desperate population by offering access to comprehensive and coordinated specialty examinations and state-of-the-art genetic evaluations.
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