Investigative Ophthalmology & Visual Science Cover Image for Volume 65, Issue 7
June 2024
Volume 65, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2024
Diseased RGC-specific targeting with gene therapy
Author Affiliations & Notes
  • Yang Hu
    Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, United States
  • Footnotes
    Commercial Relationships   Yang Hu Cholgene Therapeutics, Code C (Consultant/Contractor), QGenesys, Code O (Owner)
  • Footnotes
    Support  NIH NEI grant EY023295, Glaucoma Research Foundation CFC3, and RPB Stein Innovation Award
Investigative Ophthalmology & Visual Science June 2024, Vol.65, 5598. doi:
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    • Get Citation

      Yang Hu; Diseased RGC-specific targeting with gene therapy. Invest. Ophthalmol. Vis. Sci. 2024;65(7):5598.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Presentation Description : The lack of neuroprotective treatments for retinal ganglion cells (RGCs) and optic nerve (ON) is a central challenge for glaucoma management. Recently, more neuroprotective gene targets are emerging with significant potential for neuroprotection gene therapy. We previously identified an RGC-specific mSncg promoter that mediates CRISPR-knockdown of CHOP and SARM1 in RGCs with significant neuroprotection, and mSncg promoter-mediated NMNAT2 overexpression in glaucomatous RGCs in neuroprotection. AAV-mediated gene therapy holds great promise for glaucoma. The prerequisite for clinical translation of these promising results is to develop safe and potent gene therapy strategies. We propose to employ two novel strategies to establish glaucomatous RGC-specific gene expression/gene modulation for neuroprotection, which will avoid unnecessary and potentially toxic effects on naive RGCs. 1) We have identified a list of glaucoma-induced genes through RiboIP-RNA-seq and the genomic open regions of these genes in glaucomatous RGCs through ATAC-seq. We will follow our previous success in identifying potent RGC-specific promoters to screen the potential glaucoma-responsive promoters/enhancers of these genes in naïve and glaucomatous mouse RGCs. This screen will identify the most potent, glaucoma-responsive promoters/enhancers to drive transgene expression in diseased RGCs but have little or no activity in healthy RGCs. 2) Our collaborator developed a new RNA-sensing technique named RADAR (RNA sensing using adenosine deaminases acting on RNA), which drives transgene expression only in cells with specific mRNA expression. This powerful mRNA-sensing system can be incorporated into an AAV vector to discriminate diseased RGCs based on the disease-induced gene expression, without the need for specific promoters. We hope to encourage the field to identify novel, specific and potent diseased RGCs-targeting gene therapy strategies, provide essential information for safe and efficient translating our findings into novel neuroprotective treatments for glaucoma and possibly other neurodegeneration as well.

This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.

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