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Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006.

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Collaborators (179)

Adams DR, Adams CJ, Alejandro ME, Allard P, Ashley EA, Azamian MS, Bacino CA, Balasubramanyam A, Barseghyan H, Beggs AH, Bellen HJ, Bernick D, Bernstein JA, Bican A, Bick DP, Birch CL, Boone BE, Briere LC, Brown DM, Brownstein CA, Brush M, Burke EA, Burrage LC, Chao KR, Clark GD, Cogan JD, Cooper CM, Craigen WJ, Davids M, Dayal JG, Dell'Angelica EC, Dhar SU, Dipple KM, Donnell-Fink LA, Dorrani N, Dorset DC, Draper DD, Dries AM, Eastwood R, Eckstein DJ, Emrick LT, Eng CM, Esteves C, Estwick T, Fisher PG, Frisby TS, Frost K, Gahl WA, Gartner V, Godfrey RA, Goheen M, Golas GA, Goldstein DB, Gordon MGG, Gould SE, Gourdine JF, Graham BH, Groden CA, Gropman AL, Hackbarth ME, Haendel M, Hamid R, Hanchard NA, Handley LH, Hardee I, Herzog MR, Holm IA, Howerton EM, Iglesias B, Jacob HJ, Jain M, Jiang YH, Johnston JM, Jones AL, Koehler AE, Koeller DM, Kohane IS, Kohler JN, Krasnewich DM, Krieg EL, Krier JB, Kyle JE, Lalani SR, Latham L, Latour YL, Lau CC, Lazar J, Lee BH, Lee H, Lee PR, Levy SE, Levy DJ, Lewis RA, Liebendorder AP, Lincoln SA, Loomis CR, Loscalzo J, Maas RL, Macnamara EF, MacRae CA, Maduro VV, Malicdan MCV, Mamounas LA, Manolio TA, Markello TC, Martin C, Mazur P, McCarty AJ, McConkie-Rosell A, McCray AT, Metz TO, Might M, Moretti PM, Mulvihill JJ, Murphy JL, Muzny DM, Nehrebecky ME, Nelson SF, Newberry JS, Newman JH, Nicholas SK, Novacic D, Orange JS, Pallais JC, Palmer CGS, Papp JC, Pena LDM, Phillips JA 3rd, Posey JE, Postlethwait JH, Potocki L, Pusey BN, Ramoni RB, Robertson AK, Rodan LH, Rosenfeld JA, Sadozai S, Schaffer KE, Schoch K, Schroeder MC, Scott DA, Sharma P, Shashi V, Silverman EK, Sinsheimer JS, Soldatos AG, Spillmann RC, Splinter K, Stoler JM, Stong N, Strong KA, Sullivan JA, Sweetser DA, Thomas SP, Tifft CJ, Tolman NJ, Toro C, Tran AA, Valivullah ZM, Vilain E, Waggott DM, Wahl CE, Walley NM, Walsh CA, Wangler MF, Warburton M, Ward PA, Waters KM, Webb-Robertson BM, Weech AA, Westerfield M, Wheeler MT, Wise AL, Wolfe LA, Worthey EA, Yamamoto S, Yang Y, Yu G, Zornio PA.

Author information

Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA; Department of Epidemiology and Health Promotion, New York University College of Dentistry, New York, NY 10010, USA. Electronic address:
National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Institute for Society and Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Environmental Health Sciences, Fielding School of Public Health, University of California, Los Angeles, Los Angeles, CA 90095 USA.
Departments of Medicine and Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
Department of Pediatrics, Duke University School of Medicine, Durham, NC 27707, USA.


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.


National Institutes of Health; cooperative behavior; diagnosis; high-throughput nucleotide sequencing; phenotyping; rare diseases

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