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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="GeneReviews® [Internet]" /><meta name="citation_title" content="Resources for Genetics Professionals — Undiagnosed Diseases Network" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2018/03/15" /><meta name="citation_author" content="Stephanie E Wallace" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK487679/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Resources for Genetics Professionals — Undiagnosed Diseases Network" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Stephanie E Wallace" /><meta name="DC.Date" content="2018/03/15" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK487679/" /><meta name="description" content="The Undiagnosed Diseases Network (UDN) is an NIH-funded research study group involving the collaboration of physicians and scientists at multiple centers in the US." /><meta name="og:title" content="Resources for Genetics Professionals — Undiagnosed Diseases Network" /><meta name="og:type" content="book" /><meta name="og:description" content="The Undiagnosed Diseases Network (UDN) is an NIH-funded research study group involving the collaboration of physicians and scientists at multiple centers in the US." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK487679/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gene/app6/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK487679/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script>
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK487679_"><span class="title" itemprop="name">Resources for Genetics Professionals — Undiagnosed Diseases Network</span></h1><div class="contrib half_rhythm"><span itemprop="author">Stephanie E Wallace</span>, MD<div class="affiliation small">Senior Editor, <i>GeneReviews</i></div><div class="affiliation small">Clinical Professor, Pediatrics<br />University of Washington<br />Seattle, Washington<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.wu@2rotide" class="oemail">ude.wu@2rotide</a></div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">March 15, 2018</span>.</p><p><em>Estimated reading time: 1 minute</em></p></div><div class="body-content whole_rhythm" itemprop="text"><p>The Undiagnosed Diseases Network (UDN) is an NIH-funded research study group involving the collaboration of physicians and scientists at multiple centers in the US.</p><p>The purpose of the UDN is to evaluate individuals for whom a diagnosis has eluded the medical community. The primary goals of this network:</p><ul><li class="half_rhythm"><div>To help individuals and families living with the burden of undiagnosed diseases:</div><ul><li class="half_rhythm"><div>By reducing the delay in time to diagnosis of rare or previously unrecognized diseases</div></li><li class="half_rhythm"><div>By providing recommendations for clinical management</div></li></ul></li><li class="half_rhythm"><div>To advance research and contribute to the understanding of rare as well as common diseases</div></li></ul><p>Individuals with at least one objective clinical finding and an undiagnosed disease despite a thorough evaluation by a healthcare provider are eligible to request an evaluation through a UDN center. Referral from a licensed healthcare provider is required. Applications are reviewed, and approximately 50% of applicants are evaluated through the UDN.</p><p>Patients accepted for participation in this study are evaluated at one of several clinical sites by a team of relevant specialists (e.g., neurologists, immunologists, nephrologists, endocrinologists, geneticists). Testing may include comprehensive genomic testing and/or metabolomics. If a diagnosis is not identified after clinical evaluation and/or molecular genetic testing, further research testing may be pursued to identify a diagnosis.</p><p>To date, the UDN has evaluated more than 580 individuals whose medical conditions had remained undiagnosed despite extensive evaluations. Of these, more than 25% have been provided with a diagnosis.</p><p>The UDN also coordinates a Participant Engagement and Empowerment Resource (PEER), which provides past participants with a method of connecting with other individuals with the same or similar rare conditions.</p><p>Individuals with an undiagnosed medical condition interested in participating in the UDN research study can learn about this project at <a href="https://undiagnosed.hms.harvard.edu/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">undiagnosed.hms.harvard.edu</a>.</p><div id="bk_toc_contnr"></div></div></div>
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<div class="post-content"><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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reserved.<p class="small">GeneReviews® chapters are owned by the University of Washington. Permission is
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noncommercial research purposes only, provided that (i) credit for source (<a href="http://www.genereviews.org/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">http://www.genereviews.org/</a>) and copyright (© 1993-2025 University of
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use.</p><p class="small">For more information, see the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div><div class="small"><span class="label">Bookshelf ID: NBK487679</span></div><div style="margin-top:2em" class="bk_noprnt"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/founder_zuni/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/dtc_testing/" title="Next page in this title">Next ></a></div></div></div></div>
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