Project Title: Understanding Usher Syndrome and Retinitis Pigmentosa Through Investigating the Periciliary Membrane Complex in Photoreceptors
- Jun Yang, PhD
- Associate Professor of Ophthalmology & Visual Sciences
- University of Utah, Moran Eye Center
- Dr. Yang received her B.S. in 1989 from Nankai University, her PhD in 2001 from University of Massachusetts and completed a postdoctoral fellowship in 2001-2006 at Harvard Medical School
- $100,000 a year for two years
The research in Dr. Yang’s laboratory focuses 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, the group also studies how to treat diseases by means of gene therapy. 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.
Dr. Yang’s IRRF-supported research will focus on the identification of protein interactions associated with the proteins, when mutated, known to cause two different types of autosomal recessive retinal degeneration caused Usher 2a and Autosomal recessive retinitis pigmentosa due to two proteins, ADGRV1 and USH2A.