Research Areas

Our lab is broadly interested in identifying genetics factors underlying human diseases, investigating molecular mechanisms of disease using animal models, and developing novel therapeutics approaches. We are currently focusing on genetics of human inherited retinal degenerative diseases. Collectively, ocular diseases affect large population in the world with 40 million people are blind and another 100 million with substantial visual impairment. Together with our collaborators, we are currently working on identifying genes involved in various inherited retinal diseases (IRD), such as Leber congenital amaurosis (LCA), Usher syndrome, retinitis pigmentosa (RP), cone and rod dystrophy, and Stargardts’s disease. So far, we have recruited over 7,000 patients with IRDs across the world. A combination of next generation sequencing (NGS) based panel, whole exome, and whole genome sequencing has been conducted. These efforts have led to accurate molecular diagnosis of about 70% of the patients. In addition, we have identified and published 15 new IRD associated genes. Continued investigation of underlying genetics of unsolved IRD patients is one of our main focuses, including but not limited in identifying novel IRD associated genes, improving our ability to identify and interpret complex or noncoding mutations, and exploring digenic and oligogenic complex inheritance.