Associate Professor of Ophthalmology, University of Massachusetts Medical School
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.
Jun 26, 2020 06:55 am UTC| Science
In recent months, even as our attention has been focused on the coronavirus outbreak, there have been a slew of scientific breakthroughs in treating diseases that cause blindness. Researchers at U.S.-based Editas...