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<h1>
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<span>Ophthalmic Genomics Laboratory</span>
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</h1>
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<h2>About our work</h2>
|
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<div><div class="c-text">
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<p>The Ophthalmic Genomics Laboratory (OGL) manages biobanking and clinical molecular genetic testing of biospecimens in support of NEI clinical center protocols. The goals and objectives of the OGL are:</p><ul><li>Facilitate clinical and research molecular genetic testing for patients seen in the NEI clinics.</li><li>Maintain clinical biospecimens, including DNA, RNA, and skin- and blood-derived cell lines from patients.</li><li>Next-generation sequencing and bioinformatics pipeline for exome and genome analysis, including processing, alignment, variant calling, and variant prioritization.</li><li>Improve clinical DNA variant classification to define causal variants underlying human heritable vision disorders, including population-based analyses and functional laboratory studies.</li><li>Identify and characterize novel disease genes.</li><li class="MsoNormal"><span>Better understand genetic risk factors linked to chronic conditions such as age-related macular degeneration (AMD) and diabetic retinopathy (a leading cause of blindness in individuals with diabetes).</span></li><li>Biospecimen and diagnostic testing support for multiple NEI clinical protocols, including NCT02077894, NCT01432847, NCT00378742, and NCT02471287.</li></ul><p>The Ophthalmic Genomics Laboratory is a fully integrated, clinical functional genomic laboratory supporting NEI clinical care, research efforts, and extramural collaborations. DNA samples from over 3000 study participants and more than 30 patient cell lines are maintained within the laboratory. Represented heritable ocular conditions include but are not limited to: Achromatopsia, Albinism, Aniridia, Coloboma, Microphthalmia, Anophthalmia, Axenfeld-Rieger Syndrome, Best Disease, Bietti Crystalline Dystrophy, Choroideremia, Cone Rod Dystrophy, Congenital Stationary Night Blindness, Corneal Dystrophy, Juvenile X-linked Retinoschisis, Leber Hereditary Optic Neuropathy (LHON), mitochondrial DNA disorders, Optic Atrophy Type 1, Pattern Dystrophy, <em>PNPLA6</em> disorders, Retinitis Pigmentosa, Sorsby Fundus Dystrophy, Stickler Syndrome and Stargardt Disease, and Usher Syndrome.</p><p>Specific tests are performed in-house via CLIA-certified genetic testing, including for <em>RS1</em> X-linked Retinoschisis (XLRS), <em>OPN1LW/OPN1MW</em> Blue Cone Monochromacy (BCM), and site-directed testing for familial segregation and research finding confirmation. Clinical reports are returned to clinic, and clinical phenotyping and molecular diagnostic results are directly compared and discussed in regular clinical molecular rounds meetings.</p><p>The OGL has also developed a bioinformatics pipeline for processing next-generation sequencing data, including panel, exome, and genome datasets, for annotating different variation types such as single nucleotide variants, insertions-deletions, large deletions, and duplications, and structural variations including translocations. Variant prioritization tools are developed by the lab using large disease cohorts, internal variant frequencies, and development of pipeline annotations such as variation constraint, in silico predictors, and published epigenomic datasets.</p>
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<div class="c-group__staff-list c-section" id="key-staff">
|
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<h2>Ophthalmic Genomics Laboratory key staff</h2>
|
||
<div class="views-element-container">
|
||
<div class="js-view-dom-id-0586a50a01f0a02f56f0a7d8e2699efec6c39708334b043b89746ea58c33d14d lab-staff">
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Key staff table
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<th id="view-title-table-column" class="views-field views-field-title" scope="col">Name</th>
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<th id="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title" scope="col">Title</th>
|
||
<th id="view-field-email-table-column" class="views-field views-field-field-email" scope="col">Email</th>
|
||
<th id="view-field-phone-table-column" class="views-field views-field-field-phone" scope="col">Phone</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td headers="view-title-table-column" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/chelsea-bender-0" hreflang="en">Chelsea Bender, BS</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Laboratory Manager </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:chelsea.bender@nih.gov">chelsea.bender@nih.gov</a> </td>
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<td headers="view-field-phone-table-column" class="views-field views-field-field-phone"> </td>
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<td headers="view-title-table-column" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/hannah-evans" hreflang="en">Hannah Evans, MS</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Research Associate </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:hannah.evans@nih.gov">hannah.evans@nih.gov</a> </td>
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<td headers="view-field-phone-table-column" class="views-field views-field-field-phone"> </td>
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</tr>
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<tr>
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<td headers="view-title-table-column" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/bin-guan" hreflang="en">Bin Guan, PhD, FACMG</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Director </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:bin.guan@nih.gov">bin.guan@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-594-0029 </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="view-title-table-column" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/robert-hufnagel" hreflang="en">Robert B. Hufnagel, M.D., Ph.D.</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Co-Director </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:robert.hufnagel@nih.gov">robert.hufnagel@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-503-1305 </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="view-title-table-column" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/zhiyu-li" hreflang="en">Zhiyu Li, MD</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Biologist </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:zhiyu.li@nih.gov">zhiyu.li@nih.gov</a> </td>
|
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<td headers="view-field-phone-table-column" class="views-field views-field-field-phone"> </td>
|
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|
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|
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<td headers="view-title-table-column" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/amelia-naik" hreflang="en">Amelia Naik, BS</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Biologist </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:amelia.naik@nih.gov">amelia.naik@nih.gov</a> </td>
|
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<td headers="view-field-phone-table-column" class="views-field views-field-field-phone"> </td>
|
||
</tr>
|
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|
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<td headers="view-title-table-column" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/ranya-rawi" hreflang="en">Ranya Al Rawi, BS</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Senior Research Associate </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:ranya.alrawi@nih.gov">ranya.alrawi@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="view-title-table-column" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/melissa-reeves" hreflang="en">Melissa Reeves, PhD</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Technical Laboratory Manager </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:Melissa.Reeves@nih.gov">Melissa.Reeves@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="view-title-table-column" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/ehsan-ullah" hreflang="en">Ehsan Ullah, PhD</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Technical Laboratory Director </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:ehsan.ullah@nih.gov">ehsan.ullah@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="view-title-table-column" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/sairah-yousaf" hreflang="en">Sairah Yousaf, PhD</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">LGG Fellow </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:sairah.yousaf@nih.gov">sairah.yousaf@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone"> </td>
|
||
</tr>
|
||
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|
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|
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|
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|
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<div class="c-group__staff-list c-section" id="alumni-staff">
|
||
<div class="views-element-container">
|
||
<div class="js-view-dom-id-9e13e35dcfe48a19fa76db4088d1b4d02115508a253a3a2fd459d4eee93065c5 lab-alumni">
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|
||
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|
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<div class="views-element-container" id="block-views-block-news-page-block-5">
|
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<div>
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<div class="c-filter js-view-dom-id-9afe03bdf859eb806ae3116089ef7ee88042b48e2c48ebe77392b88c0a7e991f news-page news-page--block_5">
|
||
|
||
|
||
|
||
|
||
<div class="news-header">
|
||
<h2 class="c-filter__heading">News from this lab</h2>
|
||
</div>
|
||
|
||
|
||
|
||
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||
|
||
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||
|
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<div class="c-sidebar-widget__list-item views-row">
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<div class="c-teaser">
|
||
<div class="c-teaser__image">
|
||
|
||
<img loading="lazy" src="/sites/default/files/styles/thumbnail/public/2024-09/variability%20IRD.jpg?itok=ALavfWoS" width="200" height="200" alt="Ophthalmic images from the study probands exhibit variable forms of retinal dystrophy as shown on fundus photos, fundus autoflorescence and optical coherence tomography." />
|
||
|
||
|
||
|
||
</div>
|
||
<div class="c-teaser__content">
|
||
<h3 class="c-teaser__header">
|
||
<a class="c-teaser__link" href="/about/news-and-events/news/scientists-discover-gene-responsible-rare-inherited-eye-disease">
|
||
Scientists discover gene responsible for rare, inherited eye disease
|
||
</a>
|
||
</h3>
|
||
<p class="c-teaser__date">
|
||
<time datetime="2024-09-26T10:57:41-04:00">September 26, 2024</time>
|
||
</p>
|
||
<div class="c-teaser__summary">
|
||
Scientists at the National Eye Institute and their colleagues have identified a gene responsible for some inherited retinal diseases (IRDs), which are a group of disorders that damage the eye’s light-sensing retina and threatens vision.
|
||
</div>
|
||
</div>
|
||
</div>
|
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</div>
|
||
<div class="c-sidebar-widget__list-item views-row">
|
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<div class="c-teaser">
|
||
<div class="c-teaser__image">
|
||
|
||
<img loading="lazy" src="/sites/default/files/styles/thumbnail/public/2024-12/update.png?itok=tdP1Tn0j" width="200" height="200" alt="" />
|
||
|
||
|
||
|
||
</div>
|
||
<div class="c-teaser__content">
|
||
<h3 class="c-teaser__header">
|
||
<a class="c-teaser__link" href="/about/news-and-events/news/nei-launches-new-funding-mechanism-grants-intramural-investigators">
|
||
NEI launches new funding mechanism: Grants for intramural investigators
|
||
</a>
|
||
</h3>
|
||
<p class="c-teaser__date">
|
||
<time datetime="2024-08-12T14:30:44-04:00">August 12, 2024</time>
|
||
</p>
|
||
<div class="c-teaser__summary">
|
||
A new NEI intramural grant program called “Innovate Together” enables intramural postdoctoral fellows and staff scientists to explore new tools and techniques.
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<div class="c-sidebar-widget__list-item views-row">
|
||
|
||
<div class="c-teaser">
|
||
<div class="c-teaser__image">
|
||
|
||
<img loading="lazy" src="/sites/default/files/styles/thumbnail/public/2022-01/RPE%20layer_Albinism.png?itok=tRBIcV-W" width="200" height="200" alt="Group of cells tinted purple in the middle and pink at the edges representing a human induced stem cell colony from a patient with albinism." />
|
||
|
||
|
||
|
||
</div>
|
||
<div class="c-teaser__content">
|
||
<h3 class="c-teaser__header">
|
||
<a class="c-teaser__link" href="/about/news-and-events/news/nih-researchers-develop-first-stem-cell-model-albinism-study-related-eye-conditions">
|
||
NIH researchers develop first stem cell model of albinism to study related eye conditions
|
||
</a>
|
||
</h3>
|
||
<p class="c-teaser__date">
|
||
<time datetime="2022-01-11T11:00:00-05:00">January 11, 2022</time>
|
||
</p>
|
||
<div class="c-teaser__summary">
|
||
Researchers at the National Eye Institute (NEI) have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA).
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="news-footer">
|
||
<p class="u-text-center"><a class="c-btn" href="/about/news-and-events/news">See all NEI and Grantee news</a></p>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
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||
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</div>
|
||
|
||
|
||
|
||
<div id="block-researchatnei" class="c-callout c-callout--wide c-callout--rounded">
|
||
<figure class="c-callout__image">
|
||
<img src="/sites/default/files/styles/400px_square_crop/public/2019-04/shutterstock_605501567_333.jpg?itok=yofmpBZG" alt="">
|
||
</figure>
|
||
<div class="c-callout__content">
|
||
<h2 class="c-callout__heading">Research at NEI</h2>
|
||
|
||
|
||
|
||
|
||
<ul><li><a href="/research/research-labs-and-branches">Research Labs and Branches</a></li><li><a href="/research/research-labs-and-branches/we-are-nei-intramural">Principal Investigators</a></li><li><a href="/grants-and-training/training-nei">Training at NEI</a></li><li><a href="/about/news-and-events/news">Research News</a></li></ul>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<p class="views-element-container c-last-updated" id="block-views-block-nei-last-updated-block-1"><strong>Last updated:</strong> February 24, 2025</p>
|
||
|
||
|
||
</div>
|
||
<aside class="r-sidebar" role="complementary">
|
||
<div class="c-sidebar-widget">
|
||
<div class="c-chief">
|
||
<div class="c-chief__upper">
|
||
<div class="views-element-container">
|
||
<div class="o-table--sortable js-view-dom-id-f612c5e7331570723dbbd88e9d07365db0ea8520620b3c0466addb2379139fdc lab-staff">
|
||
|
||
|
||
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||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="views-row">
|
||
<div class="views-field views-field-field-lab-staff-headshot"><div class="field-content c-chief__image">
|
||
<img loading="lazy" src="/sites/default/files/styles/thumbnail/public/2024-04/BinGuan_2023m.jpg?itok=WZd1s25x" width="200" height="200" alt="Bin Guan, PhD, FACMG" />
|
||
|
||
|
||
</div></div><div class="views-field views-field-view-node"><span class="field-content c-chief__bio"><p class="c-chief__title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/bin-guan" hreflang="en">Bin Guan, PhD, FACMG</a></p>
|
||
<p></p>
|
||
<p class="c-chief__department-title">Director</p>
|
||
<p class="c-chief__department-title"></p>
|
||
<p class="c-chief__email"><a href="mailto:bin.guan@nih.gov">Email</a> </p>
|
||
<a href="/research/research-labs-and-branches/we-are-nei-intramural/bin-guan" class="c-link__link">View bio</a></span></div></div>
|
||
|
||
|
||
|
||
|
||
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||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="c-sidebar-widget__contact-information">
|
||
<div class="c-sidebar-widget__header">
|
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<h2 class="c-sidebar-widget__title">Contact <span>Information</span></h2>
|
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</div>
|
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