Title: Phosphoinositide and cilia signaling in eye development and disease

　　Speaker：Prof. Yang Sun，School of Medicine，Stanford University 

　　Time: June 26, 2024, 1:30-3:00 pm

　　Venue: B101，Lui Che Woo Building

　　Host: Prof. Yulong Li

　　Student Host: Haiyun Huang 

　　Abstract

　　Phosphoinositides are a group of signaling lipids that play crucial roles in various cellular processes, including membrane trafficking, cytoskeletal organization, and signal transduction. Dysregulation of the enzymes that regulate these molecules can cause human disease such as Lowe syndrome and Joubert syndrome. Lowe syndrome, a rare X-linked multisystem disorder presenting with major abnormalities in the eyes, kidneys, and central nervous system, is caused by mutations in OCRL gene. Encoding an inositol polyphosphate 5-phosphatase, OCRL catalyzes the hydrolysis of PI(4,5)P2 into PI4P. There are no effective targeted treatments for Lowe syndrome. I will discuss the recent advances in Lowe syndrome and our understanding of OCRL in cell biology.    Another cilia related condition is Joubert syndrome, a rare genetic disorder characterized by the malformation of the cerebellar vermis, presenting a distinctive "molar tooth sign" on brain imaging. This condition leads to a range of symptoms, including hypotonia, ataxia, developmental delays, and abnormalities in eye movements and breathing patterns. We recently discovered a novel link between cilia and mitochondria and I will discuss the basic and translational findings related to Joubert syndrome.

　　Short Bio

　　Dr. Yang Sun MD.PhD. is a Professor and Vice Chair of Ophthalmology at Stanford University School of Medicine. Dr. Sun is a clinician-scientist with clinical specialty in glaucoma medical and surgical management, as well as cataract surgery. He practices at both Byers Eye Institute at Stanford as well as Palo Alto VA medical center. He is the Laurie Kraus Lacob Faculty Scholar at Stanford Child Health Research Institute. Dr. Sun received his BA in Biophysics from Johns Hopkins University, followed by a MD.PhD. degree from Washington University School of Medicine. He completed Ophthalmology residency at Stanford University and a prestigious Heed fellowship at University of Michigan, Ann Arbor. He has been continuously funded by National Eye Institute and Veterans Administration.  Dr. Sun holds several U.S. patents on novel regulators of eye pressure and is the primary investigator on a number of glaucoma clinical trials. He is a member of Stanford BioX faculty and elected as a member of American Society of Clinical Investigators. 

　　Dr. Sun studies pediatric diseases of congenital glaucoma and retinal degeneration, in particular with Lowe syndrome and Joubert syndrome. In the laboratory, Dr. Sun's team uses advanced technologies of patient-based iPS cells, CRISPR gene editing, optogenetics, and functional retinal imaging to discover mechanisms of disease and develop new treatments for these blinding diseases.