The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

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• 作者：Rachel B. Ramoni¹ ; ² ; ^{rachelramoni@nyu.edu} ; John J. Mulvihill³ ; David R. Adams³ ; Patrick Allard⁴ ; ⁵ ; Euan A. Ashley⁶ ; Jonathan A. Bernstein⁷ ; William A. Gahl³ ; Rizwan Hamid⁸ ; Joseph Loscalzo⁹ ; Alexa T. McCray¹ ; Vandana Shashi¹⁰ ; Cynthia J. Tifft³ ; Undiagnosed Diseases Network
• 关键词：rare diseases ; diagnosis ; National Institutes of Health ; cooperative behavior ; phenotyping ; high-throughput nucleotide sequencing
• 刊名：The American Journal of Human Genetics
• 出版年：2017
• 出版时间：2 February 2017
• 年：2017
• 卷：100
• 期：2
• 页码：185-192
• 全文大小：383 K
• 卷排序：100

文摘

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an element of the concept of precision in medicine, requires new infrastructure that spans geography, institutional boundaries, and the divide between clinical care and research. The National Institutes of Health (NIH) Common Fund supports the Undiagnosed Diseases Network (UDN) as an exemplar of this model of precise diagnosis. Its goals are to forge a strategy to accelerate the diagnosis of rare or previously unrecognized diseases, to improve recommendations for clinical management, and to advance research, especially into disease mechanisms. The network will achieve these objectives by evaluating patients with undiagnosed diseases, fostering a breadth of expert collaborations, determining best practices for translating the strategy into medical centers nationwide, and sharing findings, data, specimens, and approaches with the scientific and medical communities. Building the UDN has already brought insights to human and medical geneticists. The initial focus has been on data sharing, establishing common protocols for institutional review boards and data sharing, creating protocols for referring and evaluating patients, and providing DNA sequencing, metabolomic analysis, and functional studies in model organisms. By extending this precision diagnostic model nationally, we strive to meld clinical and research objectives, improve patient outcomes, and contribute to medical science.