Vision loss from inher­ited retinal diseases is caused by faulty genes. My research uses cutting-edge tools—like CRISPR and RNA therapies—to fix or silence mutations in genes such as RHO, USH2A, and ABCA4. These treat­ments are tested in advanced patient-derived models, includ­ing iPSC-derived retinal cells, with the goal of devel­op­ing safe, effec­tive thera­pies ready for clini­cal translation.

Inher­ited retinal disor­ders are a diverse group of genetic condi­tions causing progres­sive vision loss. They result from patho­genic variants in genes crucial to retinal function and struc­ture, with onset ranging from early child­hood to adult­hood. Despite advances in under­stand­ing these diseases, effec­tive treat­ments are limited, under­scor­ing the need for novel thera­pies like gene editing and RNA-based approaches.

Gene editing tools such as CRISPR/Cas9 offer a promis­ing avenue to correct mutations at the DNA level, poten­tially provid­ing lasting solutions. However, in the light of its perma­nent modifi­ca­tion, the result­ing gene modifi­ca­tion has to be safe and result in the expected outcome. Conversely, RNA-based thera­pies provide a tempo­rary effect by acting at the mRNA level by, for example, modulat­ing faulty splic­ing or reduc­ing the amount of mutant toxic transcripts.

My research focuses on devel­op­ing clini­cally viable thera­peu­tic strate­gies for the most commonly mutated genes in inher­ited retinal disor­ders: RHO, USH2A, and ABCA4. Specif­i­cally, we utilize both exist­ing gene-editing tools and newly engineered ones to create safe and effec­tive appli­ca­tions with high thera­peu­tic poten­tial. Addition­ally, we explore the use of small RNA molecules for transcript modula­tion both as thera­peu­tic agents and as engineer­ing tools. Our thera­peu­tic approaches are validated in patient-derived cellu­lar models, includ­ing iPSC-derived photore­cep­tor precur­sor cells and retinal organoids.