Thesis
Advancing RNA base editing treatments for inherited retinal disease
- Abstract:
-
Gene supplementation therapy has proven to be safe and efficacious for autosomal recessive inherited retinal degenerations (IRDs). However, gene supplementation is challenging for IRDs caused by genes which require correction in more than one isoform. No therapy currently exists for IRDs associated with mutations in Crumbs homologue 1 (CRB1), a highly conserved gene essential for retinal morphogenesis and preservation of the outer limiting membrane in the mature retina. Biallelic CRB1 mutatio...
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Authors
Contributors
+ Maclaren, R
- Institution:
- University of Oxford
- Division:
- MSD
- Department:
- Clinical Neurosciences
- Role:
- Supervisor
- ORCID:
- 0000-0002-3096-4682
+ Fischer, M
- Institution:
- University of Oxford
- Division:
- MSD
- Department:
- Clinical Neurosciences
- Role:
- Supervisor
+ Downes, S
- Institution:
- University of Oxford
- Division:
- MSD
- Department:
- Clinical Neurosciences
- Role:
- Examiner
- ORCID:
- 0000-0001-7373-2665
+ Quinn, P
- Role:
- Examiner
+ Medical Research Council Confidence in Concept Award CiC205
More from this funder
- Grant:
- BRR00143-HM10.01
- Programme:
- MLSTF internal grant
- DOI:
- Type of award:
- DPhil
- Level of award:
- Doctoral
- Awarding institution:
- University of Oxford
- Language:
-
English
- Keywords:
- Subjects:
- Pubs id:
-
2420758
- Local pid:
-
pubs:2420758
- Deposit date:
-
2026-05-01
- ARK identifier:
Terms of use
- Copyright holder:
- Julia-Sophia Bellingrath
- Copyright date:
- 2025
- Notes:
- In silico analysis of pathogenic CRB1 single nucleotide variants and their amenability to base editing as a potential lead for therapeutic intervention and Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant are derived from this thesis.
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