In order to understand the molecular basis for photoreceptor degenerative diseases, laboratories including mine are researching the molecular properties, structure and function of rod and cone outer segment proteins. The absence of normal proteins or presence of defective proteins generally results in the abnormal development or slow deterioration of photoreceptor cells leading to the loss in vision. Over the past several years, scientists have identified many mutations in genes that code for a variety of photoreceptor cell specific proteins. Significant progress is now being made toward understanding the molecular basis for how mutations in these proteins cause photoreceptor cell degeneration and a loss in vision. Current research in my laboratory is directed toward identifying photoreceptor proteins that play an essential role in the structure and function of rod and cone photoreceptor cells and defining their involvement in retinal degenerative diseases.
Several obstacles have to be overcome.
First, methods to efficiently target normal genes to photoreceptor cells have to be developed. In such cases, it may be necessary to first inactivate the abnormal gene prior to introducing the normal gene. Many laboratories are now carrying out research aimed at introducing genes into photoreceptor cells to maintain photoreceptor cell function and, more importantly, to prevent photoreceptor cell death. Transplantation of neural retinal tissue containing photoreceptor cells requires that the retinal neural cells including photoreceptor cells not only survive the transplantation procedure, but also make proper connections to other neural cell for vision to occur. It is not yet known if photoreceptors will function normally once transplanted.