Guided by the known protein of the elastic microfibril complex, we have targeted several candidate genes with hope of identifying a mutant factor. To this end, we have collected blood samples from single patients with PSX and as many sibling groups as possible. If the mutant factor is identified, we will then explore various molecular biological techniques, as gene therapy, to alleviate the effects of this type of glaucoma. Some forms of corneal dystrophies result from mutant genes. Our team has successfully identified a gene responsible for multiple corneal dystrophies.
Investigations are underway to determine the specific corneal changes produced by the gene.
These questions get at the root of our ability to see light, distinguish color and detect very dim lights. Using the tools of molecular biology to change the structure of the human visual pigments, we have gained insight into how the genes of the eye enable us to see color. Over the past year, we have expressed the genes for human visual pigments in a primate cell line and successfully recorded the very earliest electrical events initiated by photon absorption. By expressing mutant genes, we hope to learn how they may cause blindness and disrupt our ability to see. In addition, we are using the transgene technology described above to try and understand how a single visual pigment molecule can be sensitive to the thermal energy of our bodies.