Emilia Zin
Speaker
Emilia Zin
John Flannery Lab
Date and Time
Monday, February 10, 2020
11:10 am - 12:30 pm
Location
489 Minor Hall
Berkeley, CA
Emilia Zin's Talk
AAV Mediated Rescue of Neuronal Ceroid Lipofuscinosis-Like Retinal Disease
Mutations to the progranulin gene (GRN) can cause neuronal ceroid lipofuscinosis (NCL), known as CLN11. The deficiency of the protein progranulin leads to neuronal death both in the brain and retina, in part due to endolysosomal dysfunction. Therefore, restoring or enhancing progranulin via a gene therapy based approach represents an attractive target for treating CLN11. An adeno-associated virus (AAV) capsid that can infect all layers of the retina (7m8) can target all retinal neurons with a healthy copy of the GRN gene in a GRN-/- mouse line. This approach allows us to determine the time dependency and potential effectiveness of such gene delivery by optical coherence tomography (OCT), histology and RT-qPCR analysis of the retina.