Hemant Khanna

Our lab investigates molecular and cell biological bases of severe photoreceptor degenerative disorders, such as Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA). Our studies have identified three key ciliary proteins that are involved in protein trafficking to the sensory cilium of photoreceptors (also called outer segment): RPGR (Retinitis Pigmentosa GTPase Regulator), RP2 (Retinitis Pigmentosa 2), and CEP290 (Centrosomal Protein of 290 kDa). We use zebrafish, mouse and mouse embryonic fibroblasts as our model systems to carry out the studies.