Elena Semina, PhD

Investigator, Children's Hospital of Wisconsin Research Institute
Professor and chair, Developmental Biology Division, Medical College of Wisconsin

Office Locations

8701 Watertown Plank Rd.
Milwaukee, WI 53226
(414) 955-4996
(414) 955-6329 (fax)


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.

Areas of Interest
  • Cardiology

Education & Awards

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

Research & Publications

  • 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

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