Pediatrics: Developmental Biology

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Human Developmental Genetics Laboratory

Elena Semina, PhD

The Human Developmental Genetics Laboratory is studying genes involved in ocular and craniofacial development. We provide screening of human patients for mutations in genes of interest including B3GALTL, BMP4, CYP1B1, FOXC1, FOXE3, OTX2, PITX2, PITX3, SOX2, VSX2 (CHX10). In addition, we are actively pursuing identification of novel genetic factors involved in human ocular conditions.

We are currently accepting patients with a wide variety of eye disorders into our study, including Peters anomaly/Peters plus syndrome, Axenfeld-Rieger anomaly/syndrome, cataract, glaucoma, anophthalmia, microphthalmia, SHORT syndrome, and other anterior segment dysgenesis conditions. Identification of the genetic etiology of these debilitating conditions will lead to a better understanding of eye development and ultimately, we hope, to better diagnosis, treatment, and prevention of these conditions.


Enrollment Packet (PDF)

Linda Reis, MS, CGC
Study Coordinator

Elena Semina, PhD
© 2015 Medical College of Wisconsin
Page Updated 01/20/2015