Anatomy, Physiology & Genetics (APG)
Uniformed Services University of the Health Sciences
4301 Jones Bridge Road
Bethesda, Maryland 20814
Diane E. Borst, Ph.D.
Research Assistant Professor
- Ph.D., University of Pennsylvania, BA., Goucher College
Molecular Mechanisms of Retinal Gene Regulation and Function
Genes that are expressed at higher relative levels in a given tissue, or tissue region, are likely to be critical to specialized tissue function. Changes that alter the expression of these genes or their subsequent gene products may underlie tissue-specific diseases. Dr. Borst studies genes that are highly expressed in the eye; her laboratory is currently focused on three projects. Control of Interphotoreceptor Retinoid-Binding Protein (IRBP) gene expression in the retina.
IRBP is synthesized in the retina solely by the photoreceptor cells and is critical for proper retinal function. Study of IRBP gene expression and its regulation is important for understanding normal and disease related function in the retina. The long-term goal of this project is to define the DNA elements required for the control of the spatial and temporal expression of the IRBP gene.
Functional genomics of fovin
The fovea is located in the macular region of the retina and is the highly specialized area of the retina responsible for high acuity vision. Fovin is a novel, previously unidentified gene that is highly expressed in the fovea. We have determined fovin's DNA sequence, its expression profile and chromosomal localization. Fovin is found on chromosome 17 and is highly expressed in the retina and brain. The long-term objective is to determine fovin's function in health and disease.
Clinical manifestations of Type II diabetes in the eye
The fat sand rat, Psammomys obesus, is an excellent animal model for the study of Type II diabetes. In collaboration with Dr. Michelle Chenault, we are characterizing the changes that occur to the lens crystallins during the formation of diabetic cataracts. We are also investigating the role that glucose transporters may play in the development of diabetic cataracts and are determining if fat sand rats develop diabetic retinopathy.