Current Research Project: Designing novel mutant specific CRISPR/Cas9 therapeutic strategies towards treating autosomal dominant Retinitis Pigmentosa (adRP)

Retinitis Pigmentosa is the leading cause of retinal degeneration globally, resulting in progressive breakdown of the retinal cells which eventually leads to blindness. The largest proportion of Retinitis Pigmentosa causative mutations are autosomal dominant (heterozygous for the disease allele) and are attractive targets for genetic therapeutic intervention. Utilising CRISPR/Cas9 gene editing, the aims of my project are to specifically target common autosomal dominant Retinitis Pigmentosa (adRP) causative genes, RHO and NR2E3, in hope of rescuing the disease phenotype.

With the generation of preclinical genetic models, the aim is to target the disease genetically by either Knock-Out (KO) of the mutant allele and/or correction of the mutant allele into the wild-type sequence utilising a range of CRISPR/Cas9 technologies including Prime Editing, to hence prevent further retinal degeneration.