Undiagnosed Diseases Network

The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.

UDN was established in 2014 with seven clinical sites located at medical institutions across the United States. As of 2019, twelve clinical sites are open. Shared resources include a central biorepository, sequencing core, metabolomics core, and animal research centers. Provided by Wikipedia
Showing 1 - 4 results of 4 for search 'Undiagnosed Diseases Network', query time: 0.01s Refine Results
  1. 1
    Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases

    Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases by Emily Alsentzer, Michelle M. Li, Shilpa N. Kobren, Ayush Noori, Undiagnosed Diseases Network, Isaac S. Kohane, Marinka Zitnik

    Published 2025-06-01
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  2. 2
    Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

    Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

    Published 2025-01-01
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  3. 3
    P708: Investigating the diagnostic yield of long read sequencing in a selected cohort of families with undiagnosed disease

    P708: Investigating the diagnostic yield of long read sequencing in a selected cohort of families with undiagnosed disease by John O'Shea, Robert Lewis, Alexandra Rangel, Brendan O'Fallon, Andrew Dixon, Christina Glenzel, Megan Hirschi, Erica Clyde, Undiagnosed Diseases Network, Erin Baldwin, Ashley Andrews, Lorenzo Botto, Pinar Bayrak-Toydemir, Rong Mao

    Published 2025-01-01
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  4. 4
    Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

    Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations by Shilpa Nadimpalli Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander Veit, Rosario I. Corona, George de V. Carvalho Neto, Julian Willett, Michele Berselli, William Ronchetti, Stanley F. Nelson, Julian A. Martinez-Agosto, Richard Sherwood, Joel Krier, Isaac S. Kohane, Undiagnosed Diseases Network, Shamil R. Sunyaev

    Published 2025-08-01
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