作者
Kimberly Splinter, David R Adams, Carlos A Bacino, Hugo J Bellen, Jonathan A Bernstein, Alys M Cheatle-Jarvela, Christine M Eng, Cecilia Esteves, William A Gahl, Rizwan Hamid, Howard J Jacob, Bijal Kikani, David M Koeller, Isaac S Kohane, Brendan H Lee, Joseph Loscalzo, Xi Luo, Alexa T McCray, Thomas O Metz, John J Mulvihill, Stanley F Nelson, Christina GS Palmer, John A Phillips III, Leslie Pick, John H Postlethwait, Chloe Reuter, Vandana Shashi, David A Sweetser, Cynthia J Tifft, Nicole M Walley, Michael F Wangler, Monte Westerfield, Matthew T Wheeler, Anastasia L Wise, Elizabeth A Worthey, Shinya Yamamoto, Euan A Ashley
发表日期
2018/11/29
期刊
New England Journal of Medicine
卷号
379
期号
22
页码范围
2131-2139
出版商
Massachusetts Medical Society
简介
Background
Many patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases. The UDN, which is funded by the National Institutes of Health, was formed in 2014 as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a central biorepository, a metabolomics core, and a model organisms screening center were added.
Methods
We evaluated patients who were referred to the UDN over a period of 20 months. The patients were required to have an undiagnosed condition despite thorough evaluation by a health care provider. We determined the rate of diagnosis among patients who subsequently had a complete evaluation, and we observed the effect …
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K Splinter, DR Adams, CA Bacino, HJ Bellen… - New England Journal of Medicine, 2018