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id="jr-fip-info-p"><a id="jr-fip-prev" class="wsprkl btn" title="Jump to previuos match">◀</a><button id="jr-fip-matches">no matches yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK487679_"><span class="title" itemprop="name">Resources for Genetics Professionals — Undiagnosed Diseases Network</span></h1><p class="contribs">Wallace SE.</p><p class="fm-aai"><a href="#_NBK487679_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 1 minute</em></p></div></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><div class="fm-sec"><h2 id="_NBK487679_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><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><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">March 15, 2018</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Wallace SE. Resources for Genetics Professionals — Undiagnosed Diseases Network. 2018 Mar 15. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/founder_zuni/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/dtc_testing/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.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></div></div>
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