# Application of RNA-targeting Cas9 to Fuchs' dystrophy

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA, SAN DIEGO · 2020 · $332,377

## Abstract

PROJECT SUMMARY
Fuchs’ endothelial corneal dystrophy is a degenerative disorder of the eye’s corneal endothelium and the most
common indication for corneal transplantation. The majority of patients carry a trinucleotide repeat expansion in
the TCF4 gene, causing sequestration of the MBNL1 splicing factor and widespread mis-splicing of MBNL1-
regulated transcripts. Here we propose to use patient-derived cells to provide a characterization of the molecular
pathology of this disease and evaluate the potential of our newly developed RNA-targeting CRISPR/Cas9 system
as a therapeutic modality to eliminate toxic repeat expansions in TCF4 RNA transcripts.

## Key facts

- **NIH application ID:** 9968249
- **Project number:** 5R01EY029166-03
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN DIEGO
- **Principal Investigator:** Natalie Adel Afshari
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $332,377
- **Award type:** 5
- **Project period:** 2018-04-01 → 2022-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9968249

## Citation

> US National Institutes of Health, RePORTER application 9968249, Application of RNA-targeting Cas9 to Fuchs' dystrophy (5R01EY029166-03). Retrieved via AI Analytics 2026-06-02 from https://api.ai-analytics.org/grant/nih/9968249. Licensed CC0.

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