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<div id="block-nei-page-title">
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<h1>
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<span>Ophthalmic Molecular Genetics Section</span>
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</h1>
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<div class="c-section">
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<h2>Current research</h2>
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<div>
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<div><div class="c-text">
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<p>This section utilizes a number of different approaches to study inherited visual diseases affecting all parts of the eye.</p><p>In one approach to understanding inherited visual diseases we use positional cloning to identify genes important in human inherited diseases. Diseases currently undergoing linkage analysis, gene isolation, or characterization of mutations include retinitis pigmentosa, inherited cataracts, Bietti crystalline dystrophy, and several corneal dystrophies.</p><p>In a second approach, we attempt to establish associations between sequence changes in and around candidate genes and specific visual phenotypes. We have applied this type of study primarily to prevalent diseases with a complex inheritance pattern, including age related cataracts, myopia, and glaucoma.</p><p>Once a candidate gene has been identified and confirmed, the biochemical and pathophysiological implications of identified mutations are explored both <em>in vitro</em> through recombinant expression and functional characterization of wild type and mutant proteins and <em>in vivo</em> through transgenic expression or knock out of pathological proteins both in cultured cells and model organisms such as the mouse and zebrafish. One group of proteins we have investigated in detail are the lens crystallins, which make up more than 90 percent of the soluble protein of lens and are heavily modified in most cataracts. The effects that specific modifications produce on crystallin structure and other functions such as stability, resistance to damage by ultraviolet light, and formation of macromolecular aggregates are being studied. Examples of other molecules under study include genes implicated in retinal disease, such as <em>CYP4V2</em>, <em>ZNF513</em>, and <em>KCNJ13</em>.</p>
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<div class="c-section">
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<h2>Selected publications</h2>
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<div>
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<div><div class="c-text">
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<p>Li, L., Chen, Y., Jiao, X., Jin, C., Jiang, D., Tanwar, M., Ma, Z., Huang, L., Ma, X., Sun, W., Chen, J., Ma, Y., M'Hamdi, O., Govindarajan, G., Cabrera, P.E., Li, J., Gupta, N., Naeem, M.A., Khan, S.N., Riazuddin, S., Akram, J., Ayyagari, R., Sieving, P.A., Riazuddin, S.A., Hejtmancik, J.F. Homozygosity <a href="https://pubmed.ncbi.nlm.nih.gov/28418496/">Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.</a> Invest Ophthalmol Vis Sci 2017;58:2218-2238.</p><p>Jiao, X., Li, A., Jin, Z.B., Wang, X., Iannaccone, A., Traboulsi, E.I., Gorin, M.B., Simonelli, F., Hejtmancik, J.F. <a href="https://pubmed.ncbi.nlm.nih.gov/28051075/">Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.</a> Eur J Hum Genet 2017.</p><p>Chen, J., Wang, Q., Cabrera, P.E., Zhong, Z., Sun, W., Jiao, X., Chen, Y., Govindarajan, G., Naeem, M.A., Khan, S.N., Ali, M.H., Assir, M.Z., Rahman, F.U., Qazi, Z.A., Riazuddin, S., Akram, J., Riazuddin, S.A., Hejtmancik, J.F. <a href="https://pubmed.ncbi.nlm.nih.gov/28418495/">Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.</a> Invest Ophthalmol Vis Sci 2017;58:2207-2217.</p><p>Khan, S.Y., Vasanth, S., Kabir, F., Gottsch, J.D., Khan, A.O., Chaerkady, R., Lee, M.C., Leitch, C.C., Ma, Z., Laux, J., Villasmil, R., Khan, S.N., Riazuddin, S., Akram, J., Cole, R.N., Talbot, C.C., Pourmand, N., Zaghloul, N.A., Hejtmancik, J.F., Riazuddin, S.A. <a href="https://pubmed.ncbi.nlm.nih.gov/27218149/">FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.</a> Nature communications 2016;7:10953.</p><p>Ma, X., Jiao, X., Ma, Z., Hejtmancik, J.F. <a href="https://pubmed.ncbi.nlm.nih.gov/26984531/">Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter.</a> Scientific reports 2016;6:23206.</p><p>Ma, Z., Yao, W., Chan, C.C., Kannabiran, C., Wawrousek, E., Hejtmancik, J.F. <a href="https://pubmed.ncbi.nlm.nih.gov/26851658/">Human betaA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.</a> Biochim Biophys Acta 2016;1862:1214-1227.</p><p>Chen, J., Ma, Z., Jiao, X., Fariss, R., Kantorow, W.L., Kantorow, M., Pras, E., Frydman, M., Riazuddin, S., Riazuddin, S.A., Hejtmancik, J.F. <a href="https://pubmed.ncbi.nlm.nih.gov/21636066/">Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts.</a> Am J Hum Genet 2011;88:827-838.</p><p>Riazuddin, S.A., Shahzadi, A., Zeitz, C., Ahmed, Z.M., Ayyagari, R., Chavali, V.R., Ponferrada, V.G., Audo, I., Michiels, C., Lancelot, M.E., Nasir, I.A., Zafar, A.U., Khan, S.N., Husnain, T., Jiao, X., Macdonald, I.M., Riazuddin, S., Sieving, P.A., Katsanis, N., Hejtmancik, J.F. <a href="https://pubmed.ncbi.nlm.nih.gov/20850105/">A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.</a> Am J Hum Genet 2010;87:523-531.</p><p>Li, L., Nakaya, N., Chavali, V.R., Ma, Z., Jiao, X., Sieving, P.A., Riazuddin, S., Tomarev, S.I., Ayyagari, R., Riazuddin, S.A., Hejtmancik, J.F. <a href="https://pubmed.ncbi.nlm.nih.gov/20797688/">A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.</a> Am J Hum Genet 2010;87:400-409.</p><p>Ma, Z., Piszczek, G., Wingfield, P.T., Sergeev, Y.V., Hejtmancik, J.F. The G18V <a href="https://pubmed.ncbi.nlm.nih.gov/19558189/">CRYGS Mutation Associated with Human Cataracts Increases γS-Crystallin Sensitivity to Thermal and Chemical Stress.</a> Biochemistry 2009;48:7334-7341.</p><p>Jiao, X., Yang, Z., Yang, X., Chen, Y., Tong, Z., Zhao, C., Zeng, J., Chen, H., Gibbs, D., Sun, X., Li, B., Wakins, W.S., Meyer, C., Wang, X., Kasuga, D., Bedell, M., Pearson, E., Weinreb, R.N., Leske, M.C., Hennis, A., Dewan, A., Nemesure, B., Jorde, L.B., Hoh, J., Hejtmancik, J.F., Zhang, K. <a href="https://pubmed.ncbi.nlm.nih.gov/19805132/">Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados.</a> Proc Natl Acad Sci USA 2009;106:17105-17110.</p>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="c-group__staff-list c-section" id="key-staff">
|
||
<h2>Ophthalmic Molecular Genetics Section key staff</h2>
|
||
<div class="views-element-container">
|
||
<div class="js-view-dom-id-ce2d060d3a909df209244bdf592d61d65c2887c76e75ef71ab653119b24f114d lab-staff">
|
||
|
||
|
||
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||
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||
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||
|
||
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||
|
||
<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/rongfang-chen" hreflang="en">Rongfang Chen</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Visiting Fellow </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:rongfang.chen@nih.gov">rongfang.chen@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/rebecca-clark" hreflang="en">Rebecca Clark</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Postbaccalaureate Fellow </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:rebecca.clark2@nih.gov">rebecca.clark2@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-496-3577 </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/j-hejtmancik" hreflang="en">J. Fielding Hejtmancik, M.D., Ph.D.</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Senior Investigator </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:hejtmancikj@nei.nih.gov">hejtmancikj@nei.nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-496-8300 </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/huan-hu" hreflang="en">Huan Hu</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Visiting Fellow </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:huan.hu@nih.gov">huan.hu@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-496-6999 </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/xiaodong-jiao" hreflang="en">Xiaodong Jiao, M.D.</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:xj3w@nih.gov">xj3w@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-435-2586 </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/zhiwei-ma" hreflang="en">Zhiwei Ma, M.D., Ph.D.</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Staff Scientist </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:zhiwei.ma@nih.gov">zhiwei.ma@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-594-7345 </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/yan-ma" hreflang="en">Yan Ma</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:yan.ma@nih.gov">yan.ma@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-435-2585 </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/hang-qi" hreflang="en">Hang Qi</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Visiting Fellow </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:hang.qi@nih.gov">hang.qi@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-435-1270 </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/mohd-shah" hreflang="en">Mohd Hussain Shah, Ph.D.</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Visiting Fellow </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:mohd.shah@nih.gov">mohd.shah@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/gaohui-zhou" hreflang="en">Gaohui Zhou</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Visiting Fellow </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:gaohui.zhou@nih.gov">gaohui.zhou@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone"> </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-8349cae67f2e5bea585f0fce77e5473583ebe19d70c41e5fe74c940b883e557e lab-alumni">
|
||
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</div>
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</div>
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||
</div>
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||
|
||
</article>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<div class="views-element-container" id="block-views-block-news-page-block-5">
|
||
|
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|
||
|
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|
||
<div>
|
||
|
||
<div class="c-filter js-view-dom-id-4a978333ce858b9f08b22f1f192bef906d1138b72bc31bc237a1f3a7dbc3aafc news-page news-page--block_5">
|
||
|
||
|
||
|
||
|
||
<div class="news-header">
|
||
<h2 class="c-filter__heading">News from this lab</h2>
|
||
</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/2019-08/group_all%20copy.jpg?itok=4gRAXdS6" width="200" height="200" alt="7 men look at the camera in a group portrait" />
|
||
|
||
|
||
|
||
</div>
|
||
<div class="c-teaser__content">
|
||
<h3 class="c-teaser__header">
|
||
<a class="c-teaser__link" href="/about/news-and-events/news/nei-researchers-awarded-grants-knights-templar-eye-foundation">
|
||
NEI Researchers Awarded Grants by the Knights Templar Eye Foundation
|
||
</a>
|
||
</h3>
|
||
<p class="c-teaser__date">
|
||
<time datetime="2019-07-11T18:19:35-04:00">July 11, 2019</time>
|
||
</p>
|
||
<div class="c-teaser__summary">
|
||
The Knights Templar Eye Foundation has awarded two NEI scientists grants to research inherited retinal degenerations, diseases that can cause blindness in early childhood.
|
||
</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/2019-06/Brunescent%20Nuclear%20Cataract_NEI%20NASA%20DLS.jpeg?itok=hPg-S2rL" width="200" height="200" alt="Brunescent nuclear cataract" />
|
||
|
||
|
||
|
||
</div>
|
||
<div class="c-teaser__content">
|
||
<h3 class="c-teaser__header">
|
||
<a class="c-teaser__link" href="/about/news-and-events/news/nei-charts-clearer-future-cataract-prevention-and-treatment">
|
||
NEI charts a clearer future for cataract prevention and treatment
|
||
</a>
|
||
</h3>
|
||
<p class="c-teaser__date">
|
||
<time datetime="2017-06-29T00:00:00-04:00">June 29, 2017</time>
|
||
</p>
|
||
<div class="c-teaser__summary">
|
||
Research funded by the National Eye Institute aims to reverse progression of cataracts—the most common cause of blindness worldwide—or to prevent them from forming altogether.
|
||
</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/news/leaders_UP_PNIH.jpg?itok=bR4iQYlw" width="200" height="200" alt="Leaders from the University of Philippines (UP) and Philippine NIH (PNIH) met with NEI staff in May 2015. From L to R: Dr. Fielding Hejtmancik; Dr. Marie Carmela M. Lapitan, director of research management and translation, PNIH; Dr. Arlene Samaniego, vice chancellor, UP; Dr. Eva Maria Cutiongco-de la Paz, vice chancellor for research and executive director, PNIH; Dr. Belinda Seto; Dr. Carmencita Padilla; Dr. Paul A. Sieving; Dr. Gyan Prakash, Dr. Patricia Cabrera; and Dr. Manuel Datiles." />
|
||
|
||
|
||
|
||
</div>
|
||
<div class="c-teaser__content">
|
||
<h3 class="c-teaser__header">
|
||
<a class="c-teaser__link" href="/about/news-and-events/news/dr-patricia-cabrera-learning-genetics-and-linking-nei-philippines">
|
||
Dr. Patricia Cabrera: Learning Genetics and Linking NEI to the Philippines
|
||
</a>
|
||
</h3>
|
||
<p class="c-teaser__date">
|
||
<time datetime="2015-05-22T00:00:00-04:00">May 22, 2015</time>
|
||
</p>
|
||
<div class="c-teaser__summary">
|
||
A delegation from the University of the Philippines (UP) and the Philippine National Institutes of Health recently visited NEI on May 21, 2015. It was an opportunity to renew old collaborations and discuss new ones...
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<p class="views-element-container c-last-updated" id="block-views-block-nei-last-updated-block-1"><strong>Last updated:</strong> December 18, 2024</p>
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