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Ophthalmology and Visual Sciences
Elena Semina, PhD

Elena Semina, PhD

Marjorie and Joseph Heil Professor of Ophthalmology & Visual Sciences; Professor, Pediatrics; Professor, Cell Biology, Neurobiology and Anatomy

Contact Information

Education

PhD, National Center for Medical Genetics (Moscow, Russia), 1993
Postdoctoral, Research Centre for Medical Genetics of Russian Academy of Sciences, Moscow, Russia
Postdoctoral, The University of Iowa, Iowa City, Iowa

Research Areas of Interest

  • Animals
  • Aniridia
  • Cataract
  • Child
  • Coloboma
  • Eye Abnormalities
  • Eye Diseases, Hereditary
  • Glaucoma
  • Humans
  • Infant
  • Zebrafish

Research Experience

  • Adult
  • Animals
  • Cataract
  • Child
  • Child, Preschool
  • Eye Diseases, Hereditary
  • Glaucoma
  • Humans
  • Zebrafish

Research Interests

Genes involved in embryonic development, with particular focus on ocular and craniofacial development.

Our research focuses on a broad spectrum of developmental ocular conditions ranging from anophthalmia and microphthalmia to anterior segment dysgenesis, glaucoma, and cataract, both isolated and syndromic. We seek to better understand the mechanisms behind these potentially debilitating conditions through the identification of causative mutations/genes in affected human pedigrees and characterization of their function and molecular pathways in cell and animal models. Characterization of factors involved in human disease leads to better understanding of the processes required for normal embryonic development in humans as well as other species. For families and their clinicians, identification of the disease-causing mutation supplies important information by providing a specific diagnosis, enabling more precise determination of recurrence risks, and identifying associated health risks which may need to be monitored.

Publications

  • (Reis LM, Tomei J, Gallagher R, Matter A, Carroll J, Broeckel U, Semina EV.) JAMA Ophthalmol. 2026 Jun 01;144(6):541-544 PMID: 42133303 PMCID: PMC13177189 SCOPUS ID: 2-s2.0-105039924784 05/14/2026

  • (Ceroni F, Reis LM, Watkins F, Bax DA, Fischer MC, Jeganathan K, Jewell R, Martin JS, Salt A, Seese SE, Thomson J, Semina EV, Ragge NK.) Eur J Hum Genet. 2026 Jun;34(6):874-879 PMID: 41946911 PMCID: PMC13247248 SCOPUS ID: 2-s2.0-105035321766 04/08/2026

  • (Chattannavar G, Haefeli LM, Procopio R, Reis LM, Capasso JE, Thuma TBT, Semina EV, Schneider A, Levin AV.) Ophthalmic Genet. 2026 Jun;47(3):304-308 PMID: 41486651 SCOPUS ID: 2-s2.0-105026691445 01/05/2026

  • (Seese SE, Reis LM, Schneider A, Bardakjian T, Semina EV.) J Med Genet. 2026 Feb 20;63(3):141-146 PMID: 41339071 PMCID: PMC12851817 SCOPUS ID: 2-s2.0-105023892453 12/04/2025

  • (Fischer MC, Reis LM, Lenberg J, Friedman J, Seese SE, Muheisen S, Writzl K, Golob B, Peterlin B, Semina EV.) HGG Adv. 2026 Jan 15;7(1):100539 PMID: 41139957 PMCID: PMC12648955 SCOPUS ID: 2-s2.0-105021122737 10/27/2025

  • (Reis LM, Bellingham J, Motta FL, Jurkute N, Raskin S, Ramos F, Mahroo OA, Moosajee M, Arno G, Semina EV.) Invest Ophthalmol Vis Sci. 2025 Nov 03;66(14):28 PMID: 41230902 PMCID: PMC12617670 SCOPUS ID: 2-s2.0-105021517580 11/13/2025

  • (Replogle MR, Ma X, Lin CW, Semina EV.) Sci Rep. 2025 Jul 02;15(1):23009 PMID: 40596144 PMCID: PMC12214497 SCOPUS ID: 2-s2.0-105010100561 07/02/2025

  • (Merepa SS, Reis LM, Damián A, Bardakjian T, Schneider A, Trujillo-Tiebas MJ, Ayuso C, Galarza LC, Saez Villaverde R, Ortiz-Cabrera NV, Bax DA, Holt R, Ceroni F, Edery P, Grelet M, Riccardi F, Maillard L, Costakos D, Plaisancié J, Chassaing N, Corton M, Semina EV, Ragge NK.) Eur J Hum Genet. 2025 Jul;33(7):860-869 PMID: 40301690 PMCID: PMC12229616 SCOPUS ID: 2-s2.0-105003803205 04/30/2025

  • (Ferre-Fernández JJ, Reis LM, Semina EV.) Hum Genomics. 2025 Mar 29;19(1):33 PMID: 40158102 PMCID: PMC11954209 SCOPUS ID: 2-s2.0-105001442057 03/30/2025

  • (Kara R. Grimes, Jeremy Appelbaum, Linda M. Reis, Semina EV, Gerald W. Zaidman.) Journal of Ophthalmology: Open Access. 12/06/2025

  • (Shoala TS, Reis LM, Capasso J, Semina E, Levin AV.) Oman J Ophthalmol. 2025;18(3):396-398 PMID: 41230054 PMCID: PMC12604699 11/13/2025

  • (Merepa SS, Reis LM, Damián A, Bardakjian T, Schneider A, Trujillo-Tiebas MJ, Ayuso C, Galarza LC, Saez Villaverde R, Ortiz-Cabrera NV, Bax DA, Holt R, Ceroni F, Edery P, Grelet M, Riccardi F, Maillard L, Costakos D, Plaisancié J, Chassaing N, Corton M, Semina EV, Ragge NK.) European Journal of Human Genetics. July 2025;33(7):860-869 SCOPUS ID: 2-s2.0-105003803205 07/01/2025

Publications of from the

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