When poor construction leads to destruction: How do structural defects in the light-sensing cells of the eye cause blindness?
Retinal degenerative disorders are inherited diseases that affect tens of thousands of Canadians. The effects are devastating; severe vision loss or complete blindness occurs early in life, resulting in the loss of livelihood, mobility, and independence. There is no cure, and present treatments focus on easing the symptoms of blindness instead of preventing vision loss in the first place.
My research is focused on the prevention of vision loss by understanding how specialized structures in the light-sensing cells in the eye, called photoreceptor outer segments (OS), are made, and how defects in OS assembly result in photoreceptor death and blindness. Using genetically-modified frogs, I have replicated human disease caused by mutations in two genes, prominin-1 (prom1) and photoreceptor cadherin (prCAD). I have determined that these genes are necessary for OS organization, and am now working towards identifying their specific functions.
Identifying the roles of prom1 and prCAD will benefit scientists and patients. It will further our understanding of how OS are built, a topic of great interest to visual scientists, and aid in the identification of novel therapies for some of the most common human retinal degenerative disorders.