Retinal Disease: Treatment with CRISPR, Gene Therapy and Partial Proteins – Dr. Hemant Khanna
Dr. Hemant Khanna discusses how a powerful gene editing tool called CRISPR has the potential to treat blinding I diseases such as Leber Congenital Amarosa‘s, Retinitis Pigmentosa, and others. Dr. Khanna further provides an overview of gene therapy for retinal disease, as well as a description of a novel approach to treating retinal degeneration using partial length proteins.
About the Guest:
Dr. Hemant Khanna
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.”
I have two grand nieces that started going blind as young children. Their older brother was not affected. Their parents were carriers of a rare genetic defect and the first label of the affection was “Star Grouse”. Not sure of the spelling.