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.

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.

(Farris J, Khanna C, Smadbeck JB, Johnson SH, Bothun E, Kaplan T, Hoffman F, Polonis K, Oliver G, Reis LM, Semina EV, Rust L, Hoppman NL, Vasmatzis G, Marcou CA, Schimmenti LA, Klee EW.) Am J Med Genet A. 2024 May;194(5):e63542 PMID: 38234180 PMCID: PMC11003841 SCOPUS ID: 2-s2.0-85182427833 01/18/2024
In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.

(Untaroiu A, Reis LM, Higgins BP, Walesa A, Zacharias S, Nikezic D, Costakos DM, Carroll J, Semina EV.) Invest Ophthalmol Vis Sci. 2024 Apr 01;65(4):20 PMID: 38587439 PMCID: PMC11005067 SCOPUS ID: 2-s2.0-85190399640 04/08/2024
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome

(Farris J, Khanna C, Smadbeck JB, Johnson SH, Bothun E, Kaplan T, Hoffman F, Polonis K, Oliver G, Reis LM, Semina EV, Rust L, Hoppman NL, Vasmatzis G, Marcou CA, Schimmenti LA, Klee EW.) American Journal of Medical Genetics, Part A. May 2024;194(5) SCOPUS ID: 2-s2.0-85182427833 05/01/2024
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element

(Replogle MR, Thompson S, Reis LM, Semina EV.) Human Mutation. 2024;2024 SCOPUS ID: 2-s2.0-85185155859 01/01/2024
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

(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.) Eur J Hum Genet. 2023 Nov;31(11):1251-1260 PMID: 37644171 PMCID: PMC10620399 SCOPUS ID: 2-s2.0-85168862554 08/30/2023
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.

(Reis LM, Amor DJ, Haddad RA, Nowak CB, Keppler-Noreuil KM, Chisholm SA, Semina EV.) Genes (Basel). 2023 Oct 17;14(10) PMID: 37895297 PMCID: PMC10606241 SCOPUS ID: 2-s2.0-85175276734 10/28/2023
Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development.

(Seese SE, Muheisen S, Gath N, Gross JM, Semina EV.) Dev Dyn. 2023 Apr;252(4):510-526 PMID: 36576422 PMCID: PMC10947772 SCOPUS ID: 2-s2.0-85145738490 12/29/2022
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
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
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

(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. November 2023;31(11):1251-1260 SCOPUS ID: 2-s2.0-85168862554 11/01/2023
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

(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
CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements.

(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