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Bin Guan, PhD, FACMG
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<span>Bin Guan, PhD, FACMG</span>
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<p class="title"><strong>Director</strong></p><div class="c-staff__staff-group">
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<a href="/research/research-labs-and-branches/ophthalmic-genomics-laboratory" hreflang="en">Ophthalmic Genomics Laboratory</a>
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<p class="c-contact__label"><strong>Contact Information:</strong></p>
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<a href="mailto:bin.guan@nih.gov" target="_blank">Email</a>
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301-594-0029
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<span>10 Center Drive</span>
<br />
<span>Building 10, Room 9N240C</span>
<br />
<span>Bethesda, </span>
<span>
Maryland
</span>
<span>
20814
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<div class="c-section">
<h2>Biography</h2>
<div><p>Bin Guan is the Director of the Ophthalmic Genomics Laboratory at the National Eye Institute, a CLIA-certified genetic diagnostic lab specialized in biorepository and diagnostics for patients with inherited eye diseases. He is board-certified in the Laboratory Genetics and Genomics by the American Board of Medical Genetics and Genomics. He has a broad background and unique combination of expertise in biology, biochemistry, genetics, genomics, and bioinformatics. After obtaining his PhD from the University of Maryland Baltimore County (UMBC), he trained in Cancer Genomics at the Johns Hopkins University followed by Endocrine Genetics at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK/NIH). He completed his medical genetics fellowship at the National Human Genome Research Institute (NHGRI/NIH) in 2021.</p></div>
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<h2>Current research</h2>
<div><p>The goal of our research is to understand which sequence variants and how they contribute to heritable ocular disorders including those in children and adults with rare eye diseases and syndromes. Our efforts center on a few areas: 1) improve variant classification using large datasets and automated algorithms; 2) to identify genes and variants that evade detection in commercial genetic testing; 3) to prove gene:disease association using cell and animal models; 4) to perform preclinical studies to develop future therapeutics for genetic eye diseases. Our research often involves collaborations with experts on NIH campus and around the world.</p></div>
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<h2>Selected publications</h2>
<div>
<div><div class="c-text">
<ol><li>Ullah, E., Lin, S., Lu, J., Bender, C., Webster, A.R., Malka, S., Madusudhan, S., Rees, E., Williams, D., Agather, A.R., Cukras, C.A., Hufnagel, R.B., Chen, R., Huryn, L.A., Arno, G., and Guan, B. Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies. JAMA Ophthalmol. <a href="https://pubmed.ncbi.nlm.nih.gov/39325468/">https://pubmed.ncbi.nlm.nih.gov/39325468/</a></li><li>Cassini, T., Montano, C., and Guan, B. (2023). An Alternate Explanation. N Engl J Med 389, 1249-1250. 10.1056/NEJMc2305289. <a href="https://pubmed.ncbi.nlm.nih.gov/37754297/">https://pubmed.ncbi.nlm.nih.gov/37754297/</a></li><li>Guan, B., Huryn, L. A., Hughes, A. B., Li, Z., Bender, C., Blain, D., Turriff, A., Cukras, C. A., and Hufnagel, R. B. (2022). Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide. JAMA Ophthalmol 140, 730-733. <a href="https://pubmed.ncbi.nlm.nih.gov/35679059/">https://pubmed.ncbi.nlm.nih.gov/35679059/</a></li><li>Bender, C., Woo, E. G., Guan, B., Ullah, E., Feng, E., Turriff, A., Tumminia, S. J., Sieving, P. A., Cukras, C. A., and Hufnagel, R. B. (2022). Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes (Basel) 13. 10.3390/genes13040675 <a href="https://pubmed.ncbi.nlm.nih.gov/35456481/">https://pubmed.ncbi.nlm.nih.gov/35456481/</a></li><li>Guan, B., Frank, K. M., Maldonado, J. O., Beach, M., Pelayo, E., Warner, B. M., and Hufnagel, R. B. (2021). Sensitive extraction-free SARS-CoV-2 RNA virus detection using a chelating resin. iScience 24, 102960. <a href="https://pubmed.ncbi.nlm.nih.gov/34396082/">https://pubmed.ncbi.nlm.nih.gov/34396082/ </a><a href="https://gcc02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fpatents.google.com%2Fpatent%2FUS20230323425A1%2Fen&amp;data=05%7C02%7Cleo.martinez%40nih.gov%7C25e9e6f299a54afda3ce08dc595eb45a%7C14b77578977342d58507251ca2dc2b06%7C0%7C0%7C638483510480831558%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C0%7C%7C%7C&amp;sdata=N9HVnjI1IwXbuU9ddZXSkKkJV3r9s9ulU78z0zfIcSU%3D&amp;reserved=0">https://patents.google.com/patent/US20230323425A1/en</a></li><li>Reeves, M. J., Goetz, K. E., Guan, B., Ullah, E., Blain, D., Zein, W. M., Tumminia, S. J., and Hufnagel, R. B. (2020). Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Hum Mutat 41, 1528-1539. <a href="https://pubmed.ncbi.nlm.nih.gov/32531846/">https://pubmed.ncbi.nlm.nih.gov/32531846/</a></li></ol>
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