Elena Semina, PhD

Titles
Investigator, Children's Research Institute; professor and chair, Developmental Biology Division, Medical College of Wisconsin.

Division
Pediatrics

Research center/program
Developmental Biology, Herma Heart Center research.

Research interests
Cell and developmental biology, craniofacial disorders, eye diseases, fetal concerns/prematurity diseases, genetic diseases/genomics.

Study interests
Genetics, human ocular and craniofacial development, glaucoma, Peters-plus syndrome, Axenfeld-Rieger syndrome, anophthalmia/micropthalmia, zebrafish.

Education
Doctorate, National Center of Medical Genetics, Russian Academy of Medical Sciences, Moscow, 1993; fellowship and postdoctoral studies, University of Iowa, Iowa City, 1994-1997.

Honors
Outstanding Medical Student Teacher Award, Medical College of Wisconsin, 2011; Best Postdoctoral project, University of Iowa Hospitals and Clinics, Iowa City, Iowa; 1996.

Representative publications

  • Liu Y, Semina EV. Pitx2 Deviciency Results in Abnormal Ocular and Craniofacial Development in Zebrafish. PLoS One. 2012; 7(1):30896.
  • Reis LM, Semina EV. Genetics of Anterior Segment Dysgenesis Disorders. Curr Opin Ophthalmol. 2011 Sep; 22(5):314-24.
  • Sorokina EA, Muheisen S, Mlodik N, Semina EV. MIP/Aquaporin 0 Represents a Direct Transcriptional Target on PITX3 in the Developing Lens. PLoS One. 2011; 6(6):21122.
  • Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. BMP4 Loss-of-function Mutations in Developmental Eye Disorders including SHORT Syndrome. Hum Genet. 2011 Oct; 130(4):495-504.
  • Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV. Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements of PITX2. Invest Ophthalmol Vis Sci. 2011 Mar 18; 52(3):1450-9.
  • Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV. FOXE3 Plays a Significant Role in Autosomal Recessive Microphthalmia. Am J Med Genet A.  2010 Mar; 152A(3):582-90.
  • Semina EV, Ferrell RE, Mintz-Hittner HA, et al. A Novel Homeobox Gene PITX3 is Mutated in Families with Autosomal-dominant Cataracts and ASMD. Nature Genetics. 1998; 19(2):167-170.
  • Semina EV, Reiter R, Leysens N, et al. Cloning and Characterization of a Novel Bicoid-related Homeobox Transcription Factor Gene, RIEG, Involved in Rieger Syndrome. Nature Genetics. 1996; 14:392-399.

Grants

  • Molecular Mechanisms of Axenfeld-Rieger Syndrome, National Institutes of Health/National Eye Institute, principal investigator.
  • Forward Genetics to Identify Complex Gene Interactions Involved in Glaucoma, National Institutes of Health/National Eye Institute, multiple principal investigators.
  • Identification of New Mechanisms for Human Congenital Disorders, National Institutes of Health/National Eye Institute, principal investigator.
  • Zebrafish model of Peters-plus Syndrome, National Institutes of Health, principal investigator.

Contact
Children's Research Institute
8701 Watertown Plank Road,
Wauwatosa, WI 53226
Phone: (414) 955-4996
Fax: (414) 955-6329
E-mail: esemina@mcw.edu

Investigator in the areas of: