Ales Cvekl, Ph.D.

We are studying mouse eye as a model system to elucidate molecular mechanisms of embryonic development, cellular differentiation, and aging. We are particularly interested in the genes implicated in the formation of the embryonic lens. We seek to identify the complete genetic and epigenetic mechanisms that control mammalian lens development. Aberrant function of these genes causes not only lens abnormalities, but also other human congenital (existing at birth) eye diseases affecting the cornea, lens, iris, and retina. These include aniridia, characterized by the absence of irises, as well as early onset cataract, foveal hypoplasia and glaucoma.

Recently, we developed a new procedure to differentiate lens progenitor cells and differentiated lentoid bodies from human embryonic stem cells. This system is currently being used to study the earliest stages of human lens formation. In addition, using the induced pluripotent stem cells derived from cataract patients, we plan to develop novel models to study cataract formation.

Our research has implications for the identification, prevention, and treatment of inherited ocular diseases, and for a better understanding of the genetic components of age-related ocular diseases, such as cataract and age-related macular degeneration. In addition, some genes essential for eye development play important roles in the formation of other organs, including the central nervous system and pancreas.