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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 class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK487679_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK487679_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><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></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><p class="contrib-group"><span itemprop="author">Stephanie E Wallace</span>, MD.</p><a data-jig="ncbitoggler" href="#__NBK487679_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK487679_ai__"><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></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 <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing and/or metabolomics. If a diagnosis is not identified after clinical evaluation and/or <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>, 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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}
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<title>Twitter</title>
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<style type="text/css">
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<title>Facebook</title>
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<path class="st10" d="M159,99.1h-24V88.4c0-5,3.3-6.2,5.7-6.2h16.8V60l-24.4-0.1c-22.1,0-26.2,16.5-26.2,27.1v12.1H90v22.5h16.9 v67.5H135v-67.5h21.7L159,99.1z"></path>
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<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer"><svg xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" version="1.1" x="0px" y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve">
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<title>Youtube</title>
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<style type="text/css">
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.st4 {
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fill: none;
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stroke: #FFFFFF;
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</style>
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<circle class="st4" cx="124.2" cy="123.4" r="108.2"></circle>
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<g transform="translate(0,-952.36218)">
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<path class="st5" d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7 v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path>
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<p class="address_footer text-white">National Library of Medicine<br />
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<nav class="bottom-links">
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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