Professor of Ophthalmology & Visual Sciences
The Yang lab
Neurobiology of Disease
B.S. 1989, Nankai University; Ph.D. 2001, University of Massachusetts; Postdoctoral fellow 2001-2006, Harvard Medical School
The whirlin protein in photoreceptors. A. Immunoelectron microscopy shows the whirlin protein (black dots, arrows) is localized at the periciliary membrane complex in photoreceptors. B. In wild type photoreceptors, the inner segment (IS) is connected with the outer segment (OS) through the connecting cilium (CC). C. In some of whirlin knockout photoreceptors, the inner segment fuses with the outer segment and vesicles accumulate around the periciliary membrane complex.
Pathogenetic mechanisms of retinal degeneration and cell biology of photoreceptors
Retinal degeneration is mainly caused by photoreceptor cell death and retinal pigment epithelium malfunction. It generally includes retinitis pigmentosa and macular degeneration. Although many genes have been identified as responsible for these diseases, their physiological functions and pathogenic mechanisms are not clear. Additionally, many causative genes are still unidentified.
The research in Dr. Yang's laboratory is focused on the disease mechanisms and therapeutic treatments for retinal degenerative diseases using mouse models. Her research group investigates the biological functions of genes whose mutations are known to cause human retinal diseases. Using mouse models for these diseases, the group also studies how to treat these diseases by means of gene therapy. Dr.Yang's team is also interested in cell biology of photoreceptors, especially the cellular processes of intracellular trafficking, structural maintenance, and calcium regulation.
The ongoing research projects in her laboratory are to understand three things: 1. how defects in the multiple protein complex at the periciliary ridge complex in photoreceptors cause retinal degeneration in Usher Syndrome type II, which is a disease with both vision and hearing loss; 2. the biological functions of the ciliary rootlet, a cytoskeletal structure, in photoreceptors and how its defects cause retinal degeneration; 3. how calcium homeostasis is maintained in photoreceptor synaptic terminals and whether it is involved in retinal degeneration.