Application of RNA-targeting Cas9 to Fuchs' dystrophy

NIH RePORTER · NIH · R01 · $322,405 · view on reporter.nih.gov ↗

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
10155487
Project number
5R01EY029166-04
Recipient
UNIVERSITY OF CALIFORNIA, SAN DIEGO
Principal Investigator
Natalie Adel Afshari
Activity code
R01
Funding institute
NIH
Fiscal year
2021
Award amount
$322,405
Award type
5
Project period
2018-04-01 → 2022-03-31