Human Developmental Genetics Laboratory
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
(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