Semina, Elena Ph.D.
Associate Professor
Specialization: Pediatrics
Tel: (414) 456-4996 Dr. Semina's CV
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Our laboratory applies molecular genetics approaches to identify
genes that interfere with human development, with the goal of understanding
mechanisms of normal and aberrant development and better management
of associated human disorders.
In recent years, the focus of our studies has been on PITX
family of homeodomain-containing transcription factors, which play
an important role in the development of multiple organs including
the anterior segment of the eye, craniofacial region, brain, heart
and umbilical area. The PITX2 gene was identified by positional
cloning as a gene involved in Axenfeld-Rieger syndrome, a congenital
condition characterized by the anterior segment anomalies with
glaucoma, and also dental and umbilical defects. The PITX3 gene
was found to be responsible for Peters’ anomaly/ anterior
segment dysgenesis phenotype and cataracts in humans, and aphakia
in mice. Ocular development in Pitx2- and Pitx3- mutant mice is
arrested at the stage of lens vesicle formation and its separation
from the corneal ectoderm that normally induces development of
the anterior segment structures. Abnormal development of the anterior
segment of the eye often leads to blindness due to glaucoma, corneal
opacities or cataracts. The molecular mechanisms responsible for
normal development of the anterior segment of the eye are not well
defined and studies of Pitx genes’ pathways present the unique
opportunity to approach these processes. Our primary efforts are
directed towards identification of factors involved in regulation
of PITX expression as well as downstream targets genes. Our continuing
goal is development of animal models of glaucoma and other ocular
disorders for in vivo examination of the pathologic processes and
genetic identification of secondary factors contributing to disease
severity.
Our laboratory applies molecular genetics approaches to identify
genes that interfere with human development, with the goal of understanding
mechanisms of normal and aberrant development and better management
of associated human disorders. 
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