Diseases with no diagnosis: Providing relief for the rare and unknown

2008

Challenge

For individuals with rare and unknown diseases, there is no greater goal than an accurate diagnosis leading to possibilities of therapeutic relief. Doctors and scientists have long recognized the path to diagnosis as an opportunity to learn more about human disease. A program aimed at providing answers and insight could help both patients and researchers.

Advance

The NIH Undiagnosed Diseases Program (UDP) was established in 2008 and has since seen more than 150 patients a year. The success of the program is illustrated best through the discovery and diagnosis of rare disorders, such as when IRP researcher William A. Gahl, M.D., Ph.D., and colleagues uncovered a rare arterial calcification disease. By conducting clinical, radiographic and genetic studies in three families, the researchers eventually identified a novel gene mutation that causes a protein deficiency.

Impact

The UDP has received thousands of applications since opening, with approximately 10 percent of the program’s patients receiving a full diagnosis, and a further 30 percent gaining partial diagnosis. The researchers of the UDP continue to work tirelessly to discover the cause of those ailments still undiagnosed, along the way finding new biochemical, genetic and molecular pathways, and furthering our knowledge of human disease.

Publications

Press Release: NIH Launches Undiagnosed Diseases Program

St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. (2011). NT5E mutations and arterial calcifications. N Engl J Med. 364(5), 432-42.

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