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<span>Pediatric, Developmental & Genetic Ophthalmology Section</span>
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<h2>About our work</h2>
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<p>The Pediatric, Developmental and Genetic Ophthalmology Section, headed by Brian P. Brooks, MD, PhD., seeks to understand the genetic, molecular and developmental basic of inherited eye diseases that affect children and to evaluate novel approaches to therapy for these conditions. The two main areas of research at present are: 1) the genetics of uveal coloboma and 2) treatments for oculocutaneous albinism. This section is part of the NEI <a href="/research/research-labs-and-branches/ophthalmic-genetics-and-visual-function-branch">Ophthalmic Genetics and Visual Function Branch</a>.</p>
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Uveal Coloboma
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<p>Uveal coloboma is a potentially blinding, developmental abnormality of the eye caused by failure of the optic fissure to close during the 5th week of human gestation. The purpose of our clinical and basic research is to better understand the genetic and developmental mechanisms of optic fissure closure. Our short-term goal is to provide better diagnostics and genetic counseling for our patients; our long-term goal is to find preventions and/or treatments for this condition. Our approach is summarized in the following figure:</p>
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<img src="https://www.nei.nih.gov/sites/default/files/styles/large/public/2019-08/pediatric_chart.jpg?itok=KiWUvMYD" alt="lab to clinics flow chart " width="490" height="368">
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<p>Our clinical studies are focused on understanding<a href="https://clinicaltrials.gov/ct2/show/NCT01778543?term=coloboma&rank=2"> the coloboma phenotype more deeply</a>, including deep ocular and systemic phenotyping, where appropriate, leveraging the unparalleled resources of the NIH Clinical Center. Genetic analysis using the tools of whole exome/whole genome sequencing are being undertaken to identify causative genes and improve genetic counseling for patients with coloboma see and what, if any, associated clinical conditions they might have.</p><p>A complementary approach to understanding genes important in optic fissure closure in humans is the laboratory use of animal models. We use mouse and zebrafish models to better understand how genes are regulated during the course of optic fissure closure. Specific mutant mouse strains are also being investigated to discover genes that might cause coloboma in humans. These studies have identified that two zinc finger proteins, Nlz1 and Nlz2, regulate optic fissure closure, perhaps through a Pax2-dependent mechanism. We are currently trying to understand the developmental role of these and other genes from our screen in the normal process of optic fissure closure and to search for causative mutations in humans.</p>
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<h3 class="c-section__heading">
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Albinism
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</h3>
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<p>Oculocutaneous albinism (OCA) is an inherited disease characterized by reduced melanin pigment in the hair, skin and eyes. Patients with OCA have reduced best-corrected visual acuity, likely due to developmental eye defects such as foveal hypoplasia and abnormal routing of ganglion cell axons at the level of the optic chiasm. The precise reason why changes in melanin pigmentation during development result in developmental eye abnormalities is unclear. However, we hypothesize that improving the process of melanin production may secondarily improve the visual potential of patients with albinism, if given during an appropriate developmental window.</p><p>To this end, we are trying to identify compounds that might improve melanin pigmentation in laboratory models and, therefore, be candidates for pilot clinical trials. For example, we have found that treatment of a mouse model of one form of albinism, OCA1b, with an FDA-approved drug, nitisinone, improves eye and fur pigmentation. We are conducting a pilot, proof-of-concept clinical trial of this drug in five adults with OCA1b. We are also evaluating whether nitisinone improves melanin pigmentation in mouse models of other forms of albinism. Lastly, in collaboration with the National Center for Advanced Therapeutics (NCATS), we are screening pharmaceutical libraries for compounds that may activate the rate-limiting enzyme in melanin synthesis, tyrosinase.</p>
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<h2>Selected publications</h2>
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<p>Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/32787478/">Retinoschisis associated with Kearns-Sayre syndrome. Ophthalmic Genet.</a> 2020 Oct;41(5):497-500. doi: 10.1080/13816810.2020.1799416. Epub 2020 Aug 13.</p><p>Soleilhavoup C, Travaglio M, Patrick K, Garção P, Boobalan E, Adolfs Y, Spriggs RV, Moles-Garcia E, Dhiraj D, Oosterveen T, Ferri SL, Abel T, Brodkin ES, Pasterkamp RJ, Brooks BP, Panman L. <a href="https://pubmed.ncbi.nlm.nih.gov/32561725/">Nolz1 expression is required in dopaminergic axon guidance and striatal innervation. Nat Commun.</a> 2020 Jun 19;11(1):3111. doi: 10.1038/s41467-020-16947-6.</p><p>Daich Varela M, Huryn LA, Hufnagel RB, Zein WM, Blain D, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/32434002/">Ocular and Systemic Findings in Adults with Uveal Coloboma. Ophthalmology.</a> 2020 May 17:S0161-6420(20)30467-X. doi: 10.1016/j.ophtha.2020.05.028. Online ahead of print.</p><p>George A, Cogliati T, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/32032630/">Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.</a> Exp Eye Res. 2020 Apr;193:107940. doi: 10.1016/j.exer.2020.107940. Epub 2020 Feb 4.</p><p>Kalaskar VK, Alur RP, Li LK, Thomas JW, Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/31816153/">High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.</a> Hum Mutat. 2020 Mar;41(3):678-695. doi: 10.1002/humu.23954. Epub 2019 Dec 9.</p><p>Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A. <a href="https://pubmed.ncbi.nlm.nih.gov/30862798/">Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.</a> Nat Commun. 2019 Mar 12;10(1):1180. doi: 10.1038/s41467-019-08547-w.</p><p>Adams DR, Menezes S, Jauregui R, Valivullah ZM, Power B, Abraham M, Jeffrey BG, Garced A, Alur RP, Cunningham D, Wiggs E, Merideth MA, Chiang PW, Bernstein S, Ito S, Wakamatsu K, Jack RM, Introne WJ, Gahl WA, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/30674731/">One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.</a> JCI Insight. 2019 Jan 24;4(2):e124387. doi: 10.1172/jci.insight.124387. Online ahead of print.</p><p>Onojafe IF, Megan LH, Melch MG, Aderemi JO, Alur RP, Abu-Asab MS, Chan CC, Bernardini IM, Albert JS, Cogliati T, Adams DR, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/30347088/">Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.</a> Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):4945-4952. doi: 10.1167/iovs.16-20293.</p><p>Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M. <a href="https://pubmed.ncbi.nlm.nih.gov/30055837/">Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.</a> Ophthalmology. 2018 Dec;125(12):1937-1952. doi: 10.1016/j.ophtha.2018.05.026. Epub 2018 Jul 25.</p><p>Brooks BP, Jeffrey B. <a href="https://pubmed.ncbi.nlm.nih.gov/29879289/">Methodological Insights for Randomized Clinical Trials of Retinitis Pigmentosa: Lessons Learned From a Trial of Valproic Acid. JAMA Ophthalmol.</a> 2018 Aug 1;136(8):857-858. doi: 10.1001/jamaophthalmol.2018.1167.</p><p>Liu C, Widen SA, Williamson KA, Ratnapriya R, Gerth-Kahlert C, Rainger J, Alur RP, Strachan E, Manjunath SH, Balakrishnan A, Floyd JA, UK 10K Consortium, Li T, Waskiewicz A, Brooks BP, Lehmann OJ, Fitzpatrick DR, Swaroop A. <a href="https://pubmed.ncbi.nlm.nih.gov/26908622/">A secreted WNT-ligan binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.</a><em>Hum Mol Genet</em>. 25: 1382-91 (2016).</p><p>Dutta S, Sriskanda S, Boobalan E, Alur RP, Elkalhoun A, Brooks BP <a href="https://pubmed.ncbi.nlm.nih.gov/26327644/">Nlz1 is required for cilia formation in zebrafish embryogenesis.</a><em> Dev Biol.</em>406:203-211 (2015).</p><p>Babcock HE, Dutta S, Alur RP, Brocker C, Vasiliou V, Vitale S, Abu-Asab M, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/25004007/">Aldh7a1 regulates eye and limb development in zebrafish.</a><em> PLoS ONE.</em> 9:e101782 (2014). PMCID: PMC4086958.</p><p>Huynh N, Blain D, Glaser T, Doss L, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/24012100/">Systemic diagnostic testing in patients with apparently isolated uveal coloboma.</a> <em>Am J Ophthalmol.</em>156:1159-68 (2013).PMCID: PMC4167417.</p><p>Huynh N, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/24114131/">Uveal coloboma.</a><em> JAMA Ophthalmol.</em>131:1274 (2013).PMID: 24114131</p><p>Dolinska MB, Kovaleva E, Backlund P, Wingfield PT, Brooks BP*, Sergeev YV*. <a href="https://pubmed.ncbi.nlm.nih.gov/24392141/">Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzyme activity.</a> <em>PLoS ONE.</em> Jan2;9(1):e84494 (2014).PMID 24392141. <strong>* Co-corresponding, co-senior authors.</strong></p><p>Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan CC, Bernardini IM, Sergeev YV, Dolinska MB, Alur RP, Brilliant MH, Gahl WA, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/21968110/">Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.</a> <em>J Clin Invest.</em> 121: 3914-23. (2011) PMCID: PMC3223618.</p><p>Alur RP, Camasamudram V, Brown JD, Mehtani M, Onojafe IF, Sergeev YV, Boobalan E, Jone MP, Tang K, Liu H, Chun-hong X, Gong X, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/20221250/">Papillorenal syndrome-causing missense mutations in <em>PAX2/Pax2 </em>result in hypomorphic alleles in mouse and human.</a> <em>PloS Genet.</em> 6(3):e1000870. (2010) PMCID: PMC2832668.</p><p>Brown JD, Dutta S, Bharti K, Bonner RF, Munson PJ, Dawid IB, Akhtar AL, Onojafe IF, Alur RP, Gross JM, Hejtmancik JF, Jiao X, Chan WY, Brooks BP. <a href="https://pubmed.ncbi.nlm.nih.gov/19171890/">Expression profiling during ocular development identifies two <em>Nlz</em> genes with a critical role in optic fissure closure.</a><em>.</em> 106:1462-7 (2009) PMCID: PMC2631080.</p>
|
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||
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|
||
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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="key-staff">
|
||
<h2>Pediatric, Developmental & Genetic Ophthalmology Section key staff</h2>
|
||
<div class="views-element-container">
|
||
<div class="js-view-dom-id-4b249dd1df8d04aa115afceeac5e149962cb16d4d50330b8d3eed07be032d99d 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/prasad-alur" hreflang="en">Prasad Alur, Ph.D.</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Lab Manager </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:alurr@mail.nih.gov">alurr@mail.nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-496-7111 </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/elangovan-boobalan" hreflang="en">Elangovan Boobalan, Ph.D.</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:elangovanb@mail.nih.gov">elangovanb@mail.nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-451-3175 </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/brian-brooks" hreflang="en">Brian P. Brooks, 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:brooksb@nei.nih.gov">brooksb@nei.nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-451-2238 </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/sunit-dutta" hreflang="en">Sunit Dutta, 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:duttasun@mail.nih.gov">duttasun@mail.nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-594-5840 </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/aman-george" hreflang="en">Aman George, 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:aman.george@nih.gov">aman.george@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-451-2265 </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/vijay-kalaskar" hreflang="en">Vijay Kalaskar, Ph.D.</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Research Fellow </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:vijay.kalaskar@nih.gov">vijay.kalaskar@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-443-8416 </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/maryam-mokhtarzadeh" hreflang="en">Maryam Mokhtarzadeh, M.D.</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Special Volunteer </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:maryam.mokhtarzadeh@nih.gov">maryam.mokhtarzadeh@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/uma-neelathi" hreflang="en">Uma Neelathi, Ph.D.</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:uma.neelathi@nih.gov">uma.neelathi@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone">301-594-5850 </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/evan-selzer" hreflang="en">Evan Selzer</a> </td>
|
||
<td headers="view-field-lab-staff-title-table-column" class="views-field views-field-field-lab-staff-title">Special Volunteer </td>
|
||
<td headers="view-field-email-table-column" class="views-field views-field-field-email"><a href="mailto:evan.selzer@nih.gov">evan.selzer@nih.gov</a> </td>
|
||
<td headers="view-field-phone-table-column" class="views-field views-field-field-phone"> </td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
|
||
|
||
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||
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||
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||
|
||
</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-4386d4ff14e937bac2dc924e83b6ebc41754775f337f9115758ab2a8fdc7f28d lab-alumni">
|
||
|
||
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|
||
<header>
|
||
<h2>Pediatric, Developmental & Genetic Ophthalmology Section alumni </h2>
|
||
</header>
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|
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<td headers="view-title-table-column--2" class="views-field views-field-title"><a href="/research/research-labs-and-branches/we-are-nei-intramural/cuilee-sha" hreflang="en">Cuilee Sha</a> </td>
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<img loading="lazy" src="/sites/default/files/styles/thumbnail/public/2023-01/Coloboma.jpg?itok=W8qyPI6j" width="200" height="200" alt="Eye with coloboma" />
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<a class="c-teaser__link" href="/about/news-and-events/news/zebrafish-model-helps-explain-eye-development">
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Zebrafish model helps explain eye development
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<time datetime="2023-01-11T21:08:00-05:00">January 11, 2023</time>
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<div class="c-teaser__summary">
|
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Developed by NIH scientists, the model also sheds light on developmental eye disorders such as coloboma.
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NIH researchers develop gene therapy for rare ciliopathy
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<time datetime="2022-09-08T10:27:28-04:00">September 8, 2022</time>
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|
||
Researchers from the National Eye Institute (NEI) have developed a gene therapy that rescues cilia defects in retinal cells affected by a type of Leber congenital amaurosis (LCA), a disease that causes blindness in early childhood.
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Researchers use patients’ cells to test gene therapy for rare eye disease
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<time datetime="2021-01-28T10:39:24-05:00">January 28, 2021</time>
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<div class="c-teaser__summary">
|
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Scientists at the National Eye Institute (NEI) have developed a promising gene therapy strategy for a rare disease that causes severe vision loss in childhood.
|
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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 17, 2024</p>
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