Elena Semina, PhD
Marjorie and Joseph Heil Professor of Ophthalmology & Visual Sciences; Professor, Pediatrics; Professor, Cell Biology, Neurobiology and Anatomy
Contact Information
Education
Postdoctoral, Research Centre for Medical Genetics of Russian Academy of Sciences, Moscow, Russia
Postdoctoral, The University of Iowa, Iowa City, Iowa
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
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(Daruich A, Duncan M, Robert MP, Lagali N, Semina EV, Aberdam D, Ferrari S, Romano V, des Roziers CB, Benkortebi R, De Vergnes N, Polak M, Chiambaretta F, Nischal KK, Behar-Cohen F, Valleix S, Bremond-Gignac D.) Prog Retin Eye Res. 2023 Jul;95:101133 PMID: 36280537 SCOPUS ID: 2-s2.0-85140714174 10/25/2022
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(Seese SE, Muheisen S, Gath N, Gross JM, Semina EV.) Dev Dyn. 2023 Apr;252(4):510-526 PMID: 36576422 SCOPUS ID: 2-s2.0-85145738490 12/29/2022
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Axenfeld-Rieger syndrome: more than meets the eye.
(Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV.) J Med Genet. 2023 Apr;60(4):368-379 PMID: 35882526 PMCID: PMC9912354 SCOPUS ID: 2-s2.0-85135137847 07/27/2022
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ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.
(Reis LM, Chassaing N, Bardakjian T, Thompson S, Schneider A, Semina EV.) Eur J Hum Genet. 2023 Mar;31(3):363-367 PMID: 36450800 PMCID: PMC9995503 SCOPUS ID: 2-s2.0-85143135154 12/01/2022
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Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.
(Reis LM, Atilla H, Kannu P, Schneider A, Thompson S, Bardakjian T, Semina EV.) Genes (Basel). 2023 Jan 14;14(1) PMID: 36672956 PMCID: PMC9859058 SCOPUS ID: 2-s2.0-85146756040 01/22/2023
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(Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K.) European Journal of Human Genetics. 2023 SCOPUS ID: 2-s2.0-85168862554 01/01/2023
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(Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR.) Am J Hum Genet. 2022 Dec 01;109(12):2270-2282 PMID: 36368327 PMCID: PMC9748253 SCOPUS ID: 2-s2.0-85143379858 11/12/2022
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(Ferre-Fernández JJ, Muheisen S, Thompson S, Semina EV.) Hum Genomics. 2022 Oct 25;16(1):49 PMID: 36284357 PMCID: PMC9597995 SCOPUS ID: 2-s2.0-85140618755 10/27/2022
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Novel Genetic Diagnoses in Septo-Optic Dysplasia.
(Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV.) Genes (Basel). 2022 Jun 28;13(7) PMID: 35885948 PMCID: PMC9320703 SCOPUS ID: 2-s2.0-85133527590 07/28/2022
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(Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV, University of Washington Centre for Mendelian Genomics (UW-CMG), Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M, Genomics England Research Consortium, Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A.) Genet Med. 2022 Jun;24(6):1261-1273 PMID: 35341651 PMCID: PMC9245088 SCOPUS ID: 2-s2.0-85127338633 03/29/2022
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Novel Genetic Diagnoses in Septo-Optic Dysplasia
(Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, Semina EV.) Genes. July 2022;13(7) SCOPUS ID: 2-s2.0-85133527590 07/01/2022
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(Amlie-Wolf L, Bardakjian T, Kopinsky SM, Reis LM, Semina EV, Schneider A.) American Journal of Medical Genetics, Part A. January 2022;188(1):187-198 SCOPUS ID: 2-s2.0-85115658928 01/01/2022