703 lines
34 KiB
Text
703 lines
34 KiB
Text
|
|
<!DOCTYPE html>
|
|
<html lang="en" dir="ltr">
|
|
<head>
|
|
<meta charset="utf-8" />
|
|
<meta name="description" content="The Ophthalmic Genetics and Visual Function Branch at NEI studies inherited eye diseases. Learn more about the Medical Genetics and Ophthalmic Genomics Unit and its key staff." />
|
|
<meta name="google" content="vityevxlt8UuVFWvgz9_YwmJ5F0Nby_B3t54LLh-3Zw,lACaj571Gx_VdLF3HKSKUf1Wxx0H_bWxO3BYDZ_C1uw" />
|
|
<meta name="google-site-verification" content="vityevxlt8UuVFWvgz9_YwmJ5F0Nby_B3t54LLh-3Zw" />
|
|
<meta name="google-site-verification" content="lACaj571Gx_VdLF3HKSKUf1Wxx0H_bWxO3BYDZ_C1uw" />
|
|
<meta name="google-site-verification" content="UDfyeEAWNX_rJUHwog9j1kziEnByGwhkSJGLJclUWDA" />
|
|
<meta name="viewport" content="width=device-width, initial-scale=1.0" />
|
|
<script type="application/ld+json">{
|
|
"@context": "https://schema.org",
|
|
"@graph": [
|
|
{
|
|
"@type": "WebPage",
|
|
"@id": "https://www.nei.nih.gov/research/research-labs-and-branches/medical-genetics-and-ophthalmic-genomics-unit",
|
|
"breadcrumb": {
|
|
"@type": "BreadcrumbList",
|
|
"itemListElement": [
|
|
{
|
|
"@type": "ListItem",
|
|
"position": 1,
|
|
"name": "Home",
|
|
"item": "https://www.nei.nih.gov/"
|
|
},
|
|
{
|
|
"@type": "ListItem",
|
|
"position": 2,
|
|
"name": "Research at NEI",
|
|
"item": "https://www.nei.nih.gov/research"
|
|
},
|
|
{
|
|
"@type": "ListItem",
|
|
"position": 3,
|
|
"name": "Research Labs and Branches",
|
|
"item": "https://www.nei.nih.gov/research/research-labs-and-branches"
|
|
},
|
|
{
|
|
"@type": "ListItem",
|
|
"position": 4,
|
|
"name": "Medical Genetics and Ophthalmic Genomics Unit",
|
|
"item": "https://www.nei.nih.gov/research/research-labs-and-branches/medical-genetics-and-ophthalmic-genomics-unit"
|
|
}
|
|
]
|
|
},
|
|
"author": {
|
|
"@type": "GovernmentOrganization",
|
|
"@id": "https://www.nei.nih.gov",
|
|
"name": "National Eye Institute",
|
|
"url": "https://www.nei.nih.gov"
|
|
},
|
|
"publisher": {
|
|
"@type": "GovernmentOrganization",
|
|
"@id": "https://www.nei.nih.gov",
|
|
"name": "National Eye Institute",
|
|
"url": "https://www.nei.nih.gov"
|
|
}
|
|
}
|
|
]
|
|
}</script>
|
|
<link rel="icon" type="image/png" href="/themes/custom/nei/images/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/themes/custom/nei/images/apple-touch-icon.png" />
|
|
<meta name="last-updated" content="Nov 26, 2024, 10:26:53 AM" />
|
|
<link rel="icon" href="/themes/custom/nei/favicon.ico" type="image/vnd.microsoft.icon" />
|
|
<link rel="alternate" hreflang="en" href="https://www.nei.nih.gov/research/research-labs-and-branches/medical-genetics-and-ophthalmic-genomics-unit" />
|
|
<link rel="canonical" href="https://www.nei.nih.gov/research/research-labs-and-branches/medical-genetics-and-ophthalmic-genomics-unit" />
|
|
<link rel="shortlink" href="https://www.nei.nih.gov/node/229" />
|
|
|
|
<title>Medical Genetics and Ophthalmic Genomics Unit | National Eye Institute</title>
|
|
<link rel="preload" href="/themes/custom/nei/fonts/Aleo-Bold.woff2" as="font" type="font/woff2" crossorigin>
|
|
<link rel="preload" href="/themes/custom/nei/fonts/Lato-Regular.woff2" as="font" type="font/woff2" crossorigin>
|
|
<link rel="stylesheet" media="all" href="/sites/default/files/css/css_PGSk_7b88hq2qr_--_38MLvoj1ffr9jv3JhnNJTnKUM.css?delta=0&language=en&theme=nei&include=eJw1ytEKgCAMRuEXsnwk-dMxrOliTqi3j4iuDnycfFCprpbyHK4tDb-FRvwSshrFYvOErNhxBUHnCaYEcbJ_61Qji26Q5ZXa-QH_YCJ9" />
|
|
<link rel="stylesheet" media="all" href="/themes/custom/nei/css/style.css?sraguf" />
|
|
|
|
<script type="application/json" data-drupal-selector="drupal-settings-json">{"path":{"baseUrl":"\/","pathPrefix":"","currentPath":"node\/229","currentPathIsAdmin":false,"isFront":false,"currentLanguage":"en"},"pluralDelimiter":"\u0003","gtag":{"tagId":"","consentMode":false,"otherIds":[],"events":[],"additionalConfigInfo":[]},"suppressDeprecationErrors":true,"ajaxPageState":{"libraries":"eJxdjFsOwjAMBC8U6iNFbmKZgPNQ7BTK6SmgCsrPrndkTbhSTFa7D0OtZq-2Cil8yoWOj5WYYT8c18pC3pCBt_jfE17wfoTZCRYeyORRjPruLmhpIS-b2EvFmArD73CFErDUGeWkoadmekCb5fXVsCN3bGeF2EdDmb5kGqWNWZKeKTpd1SjDjEpuSXRTeOeUaxxCT9WYZ50","theme":"nei","theme_token":null},"ajaxTrustedUrl":{"form_action_p_pvdeGsVG5zNF_XLGPTvYSKCf43t8qZYSwcfZl2uzM":true},"gtm":{"tagId":null,"settings":{"data_layer":"dataLayer","include_classes":false,"allowlist_classes":"google\nnonGooglePixels\nnonGoogleScripts\nnonGoogleIframes","blocklist_classes":"customScripts\ncustomPixels","include_environment":false,"environment_id":"","environment_token":""},"tagIds":["GTM-TLVNS7W"]},"user":{"uid":0,"permissionsHash":"c48594e108b5c1c2bea409821b71477d5bc2724c8cae6d31f1d985af0daab85c"}}</script>
|
|
<script src="/sites/default/files/js/js_WgzMsgqb-MiW-Z2aLffGQHepZwX2hWrEHSrb46WqZrk.js?scope=header&delta=0&language=en&theme=nei&include=eJxdjEEOgCAMBD-E9kmkYrOpqdQAMerr5eBBvUx29jCp8HUKQOkZAe4wiY1B6Pj7yAsf33MNmZvuEq0nojnPmkFvCVmUYD6xDTUV3Vq9ATUbLxk"></script>
|
|
<script src="https://script.crazyegg.com/pages/scripts/0117/6571.js" async></script>
|
|
<script src="/modules/contrib/google_tag/js/gtag.js?sraguf"></script>
|
|
<script src="/modules/contrib/google_tag/js/gtm.js?sraguf"></script>
|
|
|
|
</head>
|
|
<body class="t-lab_page t-node__229 path-research-research-labs-and-branches-medical-genetics-and-ophthalmic-genomics-unit">
|
|
<a href="#main-content" class="u-skip-link">
|
|
Skip to content
|
|
</a>
|
|
<noscript><iframe src="https://www.googletagmanager.com/ns.html?id=GTM-TLVNS7W"
|
|
height="0" width="0" style="display:none;visibility:hidden"></iframe></noscript>
|
|
|
|
<div class="dialog-off-canvas-main-canvas" data-off-canvas-main-canvas>
|
|
|
|
<div id="u-page-outer" class="u-outer">
|
|
<div class="views-element-container site-notice-block" id="block-views-block-site-notices-block-1">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="js-view-dom-id-bca3892fe522a94248c74087cbf8646ffbc018befc8d0e64978ba8c06dc01631 site-notices">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<img src="/themes/custom/nei/images/NEI-logo-tagline.svg" alt="" width="200" height="48" class="u-print-only">
|
|
<div class="r-global-header">
|
|
<div id="r-header-outer" class="r-header">
|
|
|
|
<div class="r-header-inner">
|
|
|
|
<div id="block-nei-branding" class="o-block--logo" role="banner">
|
|
|
|
|
|
|
|
|
|
|
|
<div class="o-logo">
|
|
<a href="/" class="o-logo__link" title="Home" rel="home"><span class="o-logo__text">National Eye Institute</span> <span class="o-logo__tagline">Research Today… Vision Tomorrow</span></a>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
<div id="block-neimenubutton-2">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="o-menu-toggle"><button class="o-menu-toggle__btn" id="menu-toggle__btn" aria-controls="block-mainnavigation" aria-expanded="true">Menu</button></div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
<div class="language-switcher-language-url has-no-translation" id="block-languageswitcher" role="navigation" aria-label="Language switcher">
|
|
|
|
|
|
<ul class="links">
|
|
<li class="is-active">
|
|
<a href="/research/research-labs-and-branches/medical-genetics-and-ophthalmic-genomics-unit" class="language-link is-active" lang="en" data-drupal-link-system-path="node/229" aria-current="page">English</a>
|
|
</li>
|
|
<li>
|
|
<a href="/espanol/node/229" class="language-link is-active" lang="es" data-drupal-link-system-path="node/229" aria-current="page"> Español</a>
|
|
</li>
|
|
</ul>
|
|
|
|
|
|
</div>
|
|
<div class="search-global c-search--global" data-drupal-selector="search-global" id="block-globalsearchform" role="search">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<form action="/research/research-labs-and-branches/medical-genetics-and-ophthalmic-genomics-unit" method="post" id="search-global" accept-charset="UTF-8">
|
|
<div class="c-form__inner">
|
|
<div class="js-form-item form-item js-form-type-textfield form-item-global-terms js-form-item-global-terms">
|
|
<label for="edit-global-terms">Search the site</label>
|
|
<input data-drupal-selector="edit-global-terms" type="text" id="edit-global-terms" name="global-terms" value="" size="30" maxlength="128" placeholder="Search the site" class="form-text" />
|
|
|
|
</div>
|
|
<input data-drupal-selector="form-mupmdxl-dp-h9useoppkp9gqly0mfcbu6yktz0px0ay" type="hidden" name="form_build_id" value="form-MuPMdxl-dp_H9useOpPKP9gQLy0mFCbU6yKtZ0px0AY" />
|
|
<input data-drupal-selector="edit-search-global" type="hidden" name="form_id" value="search_global" />
|
|
<div data-drupal-selector="edit-global-actions" class="form-actions js-form-wrapper form-wrapper" id="edit-global-actions"><input data-drupal-selector="edit-global-submit" type="submit" id="edit-global-submit" name="op" value="Search" class="button js-form-submit form-submit" />
|
|
</div>
|
|
|
|
</div>
|
|
</form>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div class="r-menu-primary">
|
|
<nav aria-label="Main navigation" id="block-mainnavigation" class="o-menu-main__outer">
|
|
|
|
<ul class="o-menu o-menu-main"> <li class="o-menu-main__item o-menu-main__item--expanded o-menu-main__item--no-js"> <a href="/learn-about-eye-health" class="o-menu-main__link" data-drupal-link-system-path="node/39">Learn About Eye Health</a>
|
|
<ul class="o-menu o-menu-main__submenu"> <li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/learn-about-eye-health/healthy-vision" class="o-menu-main__link" data-drupal-link-system-path="node/788">Healthy Vision</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/learn-about-eye-health/eye-conditions-and-diseases" class="o-menu-main__link" data-drupal-link-system-path="learn-about-eye-health/eye-conditions-and-diseases">Eye Conditions and Diseases</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/learn-about-eye-health/eye-health-data-and-statistics" class="o-menu-main__link" data-drupal-link-system-path="node/825">Eye Health Data and Statistics</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/learn-about-eye-health/campaigns" class="o-menu-main__link" data-drupal-link-system-path="node/3859">Campaigns</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/learn-about-eye-health/vision-rehabilitation" class="o-menu-main__link" data-drupal-link-system-path="node/3865">Vision Rehabilitation</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/learn-about-eye-health/nei-for-kids" class="o-menu-main__link" data-drupal-link-system-path="node/162">NEI for Kids</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/learn-about-eye-health/outreach-resources" class="o-menu-main__link" data-drupal-link-system-path="node/125">Outreach Resources</a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--expanded o-menu-main__item--no-js"> <a href="/grants-and-training" class="o-menu-main__link" data-drupal-link-system-path="node/143">Grants and Training</a>
|
|
<ul class="o-menu-main__submenu o-menu"> <li class="o-menu-main__item"> <a href="/grants-and-training/how-apply" class="o-menu-main__link" data-drupal-link-system-path="node/145">How to Apply</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/funding-opportunities" class="o-menu-main__link" data-drupal-link-system-path="node/144">Funding Opportunities</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/training-nei" class="o-menu-main__link" data-drupal-link-system-path="node/146">Training at NEI</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/funding-training-and-career-development" class="o-menu-main__link" data-drupal-link-system-path="node/152">Funding for Training and Career Development</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/policies-and-procedures" class="o-menu-main__link" data-drupal-link-system-path="node/149">Policies and Procedures</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/grants-and-training/Prior-Approval-Requests" class="o-menu-main__link" data-drupal-link-system-path="node/3918">Prior Approval Requests</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/resources-researchers" class="o-menu-main__link" data-drupal-link-system-path="node/150">Resources for Researchers</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/contact-grants-and-funding-staff" class="o-menu-main__link" data-drupal-link-system-path="node/151">Contact Grants and Funding Staff</a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--expanded o-menu-main__item--no-js"> <a href="/research" class="o-menu-main__link" data-drupal-link-system-path="node/41">Research at NEI</a>
|
|
<ul class="o-menu-main__submenu o-menu"> <li class="o-menu-main__item"> <a href="/about/news-and-events/news" title="Research News" class="o-menu-main__link" data-drupal-link-system-path="about/news-and-events/news">Research News</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/research/clinical-trials" class="o-menu-main__link" data-drupal-link-system-path="node/132">Clinical Trials</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/research/research-labs-and-branches" class="o-menu-main__link" data-drupal-link-system-path="node/270">Research Labs and Branches</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/research/jobs-and-training-opportunities-nei" class="o-menu-main__link" data-drupal-link-system-path="node/564">Jobs and Training Opportunities at NEI</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/research/seminars" class="o-menu-main__link" data-drupal-link-system-path="node/4048">NEI Research Seminars</a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--expanded o-menu-main__item--no-js"> <a href="/about" class="o-menu-main__link" data-drupal-link-system-path="node/275">About NEI</a>
|
|
<ul class="o-menu-main__submenu o-menu"> <li class="o-menu-main__item"> <a href="/about/strategic-planning" class="o-menu-main__link" data-drupal-link-system-path="node/2857">Strategic Planning</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/news-and-events" class="o-menu-main__link" data-drupal-link-system-path="node/131">News and Events</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/goals-and-accomplishments" class="o-menu-main__link" data-drupal-link-system-path="node/281">Goals and Accomplishments</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/nei-history" class="o-menu-main__link" data-drupal-link-system-path="node/282">NEI History</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/nei-leadership" class="o-menu-main__link" data-drupal-link-system-path="node/415">NEI Leadership</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/budget-and-congress" class="o-menu-main__link" data-drupal-link-system-path="node/395">Budget and Congress</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/advisory-committees" class="o-menu-main__link" data-drupal-link-system-path="node/285">Advisory Committees</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/learn-about-eye-health/outreach-resources/national-eye-health-education-program" title="National Eye Health Education Program" class="o-menu-main__link" data-drupal-link-system-path="node/265">National Eye Health Education Program</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/about/donate-nei" class="o-menu-main__link" data-drupal-link-system-path="node/286">Donate to NEI</a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
</ul>
|
|
|
|
|
|
</nav>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
<div class="o-overlay" aria-hidden="true"></div>
|
|
|
|
<div class="r-breadcrumb">
|
|
|
|
<div id="block-nei-breadcrumbs">
|
|
|
|
|
|
|
|
|
|
|
|
<nav aria-label="Breadcrumb">
|
|
<ol class="c-breadcrumb">
|
|
<li>
|
|
<a href="/">Home</a>
|
|
</li>
|
|
<li>
|
|
<a href="/research">Research at NEI</a>
|
|
</li>
|
|
<li>
|
|
<a href="/research/research-labs-and-branches">Research Labs and Branches</a>
|
|
</li>
|
|
<li>
|
|
Medical Genetics and Ophthalmic Genomics Unit
|
|
</li>
|
|
</ol>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="r-page-header">
|
|
<div class="o-page-header">
|
|
|
|
<div id="block-nei-page-title">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<h1>
|
|
<span>Medical Genetics and Ophthalmic Genomics Unit</span>
|
|
</h1>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
<div class="r-highlighted">
|
|
<div data-drupal-messages-fallback class="hidden"></div>
|
|
|
|
|
|
</div>
|
|
|
|
<div class="r-help">
|
|
|
|
</div>
|
|
<main id="main-content" class="r-main">
|
|
<div class="r-pre-content">
|
|
|
|
</div>
|
|
|
|
<div class="r-splitter">
|
|
<div class="r-content">
|
|
|
|
<div id="block-nei-content">
|
|
|
|
|
|
|
|
|
|
|
|
<article data-history-node-id="229">
|
|
<div>
|
|
<div class="r-content">
|
|
|
|
|
|
<div class="c-section">
|
|
<h2>About our work</h2>
|
|
<div>
|
|
<div><div class="c-text">
|
|
|
|
|
|
|
|
|
|
<p>The Medical Genetics and Ophthalmic Genomics (MGOG) Unit seeks to understand the mechanistic basis of human heritable ocular disorders, including those in children and adults with rare diseases and syndromes. Causal genetic variation explaining central vision loss in pediatric blinding disorders is poorly understood for two reasons. First, current clinical genetic testing strategies fail to provide a molecular diagnosis in a large proportion of patients. Our understanding of variant pathogenicity is limited both by the rare frequency of these disorders, preventing creation of large disease-specific population studies, and by a lack of knowledge of the consequences of variation in the noncoding genome. Second, there are no established model systems for diseases of the macula and fovea, two neural retina specializations specific to the high acuity vision present only in humans, certain primates, lizards, and birds. Given that the macula and fovea are morphologically and molecularly distinct tissues, this creates hurdles to pre-clinical studies for gene-directed and cellular replacement therapies.</p><p>Our investigations are in the following areas:</p><ul><li>Modeling novel associations of ocular syndromes: novel candidate human disease genes are validated in zebrafish, mouse, and in vitro using CRISPR/Cas9 gene editing and developmental, molecular, and cellular biology investigations to elucidate disease mechanisms. We are currently modeling several new human disease genes in animal and cellular models. Several examples are PNPLA6 (Hufnagel et al, Journal of Medical Genetics, 2015), encoding neuropathy target esterase, CSDE1 (Guo et al, Science Advances, 2019), encoding a cold-shock domain containing RNA-binding protein, and UBA2 (Schur, Yousaf, Liu etc al, Genetics in Medicine, 2021), encoding a protein critical in SUMOylation. We have shown that, in all three cases, loss-of-function variants cause unique and recognizable neurodevelopmental disorders in humans as well as animal models, such as zebrafish. Our group has also collaborated to define multiple additional new disease-gene associations, including <em>SLC25A46</em>, <em>SMO</em>, and <em>MYRF</em>. In total, we have participated in the delineation of more than 10 new human disease genes.</li><li>Functional genomics: Defining disease-associations in the noncoding genome and in eye tissues using functional genomics techniques. Using RNAseq, ATACseq, and Hi-C, along with single-cell sequencing technologies, we are mapping the active genome in human ocular cells derived from primary and induced pluripotent cell lines for variant prioritization from human sequencing data. These transcriptomic efforts contributed to public databases such as eyeIntegration (eyeintegration.nei.nih.gov) and plae (plae.nei.nih.gov). These information are then used to annotate human exome and genome data to further genetic discovery for the coding and noncoding genome.</li></ul><p><em><strong>No longer accepting new fellows/trainees.</strong></em></p>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
</div>
|
|
|
|
<div class="c-group__staff-list c-section" id="key-staff">
|
|
<h2>Medical Genetics and Ophthalmic Genomics Unit key staff</h2>
|
|
<div class="views-element-container">
|
|
<div class="js-view-dom-id-170416346502f898f173e489c3aff1e3d03988b1a191d2c3a6089c244479f8f8 lab-staff">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<table class="cols-4">
|
|
<caption>
|
|
Key staff table
|
|
</caption>
|
|
<thead>
|
|
<tr>
|
|
<th id="view-title-table-column" class="views-field views-field-title" scope="col">Name</th>
|
|
<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/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">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>
|
|
</tbody>
|
|
</table>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div class="c-group__staff-list c-section" id="alumni-staff">
|
|
<div class="views-element-container">
|
|
<div class="js-view-dom-id-891c53dc100cbc30919b24590ea37f6ca253b08bd709577c81f1f43df66e90c2 lab-alumni">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</article>
|
|
|
|
|
|
|
|
</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> November 26, 2024</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-cbdc7798c343dda0616103164b04d1c2b67b33d64e0be5009f420c17e08b66ad lab-staff">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/2021-02/Rob%20Hufnagel%20preferred.jpg?itok=k1aUsJtI" width="200" height="200" alt="Dr. Rob Hufnagel" />
|
|
|
|
|
|
</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/robert-hufnagel" hreflang="en">Robert B. Hufnagel, M.D., Ph.D.</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:robert.hufnagel@nih.gov">Email</a> </p>
|
|
<a href="/research/research-labs-and-branches/we-are-nei-intramural/robert-hufnagel" class="c-link__link">View bio</a></span></div></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
</div>
|
|
<div class="c-sidebar-widget__contact-information">
|
|
<div class="c-sidebar-widget__header">
|
|
<h2 class="c-sidebar-widget__title">Contact <span>Information</span></h2>
|
|
</div>
|
|
<div class="views-element-container">
|
|
<div class="js-view-dom-id-cdbe9ed6b738fdc1eff0a41f7e33cc1a84d583b73f75f89b3424ea586a5a4b4e sidebar-address-labs">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="c-sidebar-widget__contact-name">
|
|
|
|
<span>Medical Genetics and Ophthalmic Genomics Unit</span>
|
|
|
|
</div>
|
|
|
|
<div class="c-sidebar-widget__contact-address">
|
|
Building 10, Room 10N226<br>
|
|
|
|
|
|
|
|
|
|
10 Center Drive
|
|
|
|
<br>
|
|
Bethesda,
|
|
Maryland
|
|
20892
|
|
</div>
|
|
|
|
<div class="c-sidebar-widget__contact-phone-fax">
|
|
|
|
|
|
<div>
|
|
<div><span>Phone:</span> 301-503-1305</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
<div class="c-sidebar-widget__contact-additional-info">
|
|
<a href="#key-staff" class="c-link__link">See additional lab contact information</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</aside>
|
|
</div>
|
|
</main>
|
|
|
|
<div class="r-footer">
|
|
<footer class="o-footer" role="contentinfo">
|
|
|
|
<div id="block-footer-2">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="o-footer__row">
|
|
<div class="o-footer__group o-footer__group--logo"><a class="o-logo__link" href="/" rel="home" title="Home"><span class="o-logo__text">National Eye Institute</span></a>
|
|
<ul class="o-menu-social">
|
|
<li class="o-menu-social__item"><a class="o-menu-social__link o-menu-social__link--facebook outlink-ignore" href="https://www.facebook.com/NationalEyeInstitute">Facebook</a></li>
|
|
<li class="o-menu-social__item"><a class="o-menu-social__link o-menu-social__link--twitter outlink-ignore" href="https://twitter.com/NatEyeInstitute">Twitter</a></li>
|
|
<li class="o-menu-social__item"><a class="o-menu-social__link o-menu-social__link--linkedin outlink-ignore" href="https://www.linkedin.com/company/national-eye-institute-nei">LinkedIn</a></li>
|
|
<li class="o-menu-social__item"><a class="o-menu-social__link o-menu-social__link--youtube outlink-ignore" href="https://www.youtube.com/user/neinih">YouTube</a></li>
|
|
</ul>
|
|
|
|
<p> </p>
|
|
</div>
|
|
|
|
<div class="o-footer__group o-footer__group--contact">
|
|
<h2 class="o-footer__title">Contact NEI</h2>
|
|
|
|
<ul class="o-menu-footer">
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/contact-us/">Contact Us</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://www.nih.gov/about-nih/visitor-information">Visit NIH</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://list.nih.gov/cgi-bin/wa.exe?SUBED1=insidenei&A=1">Get Email Updates from NEI</a></li>
|
|
</ul>
|
|
</div>
|
|
|
|
<div class="o-footer__group o-footer__group--policies">
|
|
<h2 class="o-footer__title">Policies</h2>
|
|
|
|
<ul class="o-menu-footer">
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/accessibility-information">Accessibility</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://www.nih.gov/nondiscrimination-notice-language-assistance-services">Information in Other Languages</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/nei-website-privacy-policy">Privacy</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/freedom-information-act">Freedom of Information Act (FOIA)</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/disclaimers">Disclaimers</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/web-policies ">Web Policies</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html ">Vulnerability Disclosure</a></li>
|
|
</ul>
|
|
</div>
|
|
|
|
<div class="o-footer__group o-footer__group--employees">
|
|
<h2 class="o-footer__title">For NEI Employees</h2>
|
|
|
|
<ul class="o-menu-footer">
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://intranet.nei.nih.gov">Intranet</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://intranet.nei.nih.gov/hr/Pages/emergency.aspx">Emergency Information</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://ned.nih.gov/search/search.aspx">NIH Staff Directory</a></li>
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="o-footer__row">
|
|
<div class="o-footer__full o-footer__full--parent">
|
|
<ul class="o-menu-footer o-menu-footer--swing">
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://www.nih.gov/">NIH.gov</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://hhs.gov/">HHS.gov</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://usa.gov/">USA.gov</a></li>
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
</footer>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="c-lb-wrapper" id="lb-wrapper" aria-hidden="true">
|
|
<div class="c-lb-overlay" tabindex="-1"></div>
|
|
<div role="dialog" class="c-lb" id="lb">
|
|
<div class="c-lb-header">
|
|
<button class="c-lb-close-btn"><span class="c-lb-close-btn-text">Close</span><span class="c-lb-close-btn-text times" aria-hidden="true">×</span></button>
|
|
</div>
|
|
<figure class="c-lb-figure">
|
|
<figcaption class="c-lb-caption"></figcaption>
|
|
</figure>
|
|
</div>
|
|
</div>
|
|
|
|
<script src="/sites/default/files/js/js_agazM-qm5cOcplNZo9kNIWFtUrwt0V1xgAKtLyM44Us.js?scope=footer&delta=0&language=en&theme=nei&include=eJxdjEEOgCAMBD-E9kmkYrOpqdQAMerr5eBBvUx29jCp8HUKQOkZAe4wiY1B6Pj7yAsf33MNmZvuEq0nojnPmkFvCVmUYD6xDTUV3Vq9ATUbLxk"></script>
|
|
<script src="/themes/custom/nei/js/scripts.js?sraguf"></script>
|
|
|
|
</body>
|
|
</html>
|