Cell Biology, Neurobiology & Anatomy

Research Area:   Molecular genetics of hereditary eye diseases

My work in the lab of Dr. DJ Sidjanin focuses on investigating the molecular biology of cataract formation in mice harboring spontaneous mutations leading to early-onset cataracts.  In the Sidjanin lab, we use genetic approaches to identify novel genes implicated in cataract formation.  The goal of our work is to further the understanding of what molecular events are required for proper lens development and homeostasis.  Ultimately, the knowledge gained from this research will hopefully be utilized to improve our ability to prevent, delay, or reverse cataract formation in human patients.

I am currently working on two projects.  The first mouse, blind-sterile 2, exhibits an autosomal recessive phenotype of cataracts as well as male-specific infertility.  I have mapped the causative mutation to Alkylglycerone phosphate synthase (Agps), a gene which encodes a peroxisomal enzyme required for the synthesis of ether lipids.  I am currently investigating the molecular consequences of ether-lipid depletion in lens development and homeostasis. I am also investigating an additional mouse mutant, blind-sterile (bs), which also exhibits cataracts and male-infertility.  Through identification of the gene and molecular pathways involved in the processes disrupted in bs mice, I hope to be able to link the cataract and male-infertility phenotypes of both models to specific cellular processes that are disrupted in each.