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)

Dr. Semina Lab Contact

Linda Reis, MS, CGC
Study Coordinator
(414) 955-7645 | Fax: (414) 955-6329

Elena Semina, PhD
(414) 955-4996 | Fax: (414) 955-6329

Pediatrics Developmental Biology
Translational & Biomedical Research Center, Third Floor
Children's Research Institute
8701 Watertown Plank Road
Milwaukee, WI 53226

Medical College of Wisconsin
8701 Watertown Plank Road
Milwaukee, WI 53226
(414) 955-8296
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Page Updated 02/03/2015