EURETINA 2024: CRISPR-Cas mediated base editing approaches for CRB1 related retinal dystrophy

At this year's EURETINA Congress, Ophthalmology Times Europe was privileged to speak with Hoda Shamsnajafabadi, MSc, PhD, who presented research which received the second-place prize for best e-poster (August Deutman award). Shamsnajafabadi is a postdoctoral research scientist at the University of Oxford, Oxfordshire, England.

The poster, titled "CRISPR-Cas mediated base editing approaches for CRB1 related retinal dystrophy," presents three case studies of patients with CRB1-associated retinal dystrophy. According to Shamsnajafabadi and her colleagues, three pathogenic CRB1 variants, including a novel c.2833G>A variant, were found to be associated with early-onset cone-rod dystrophy. These findings further suggest that adenine base editors could be a suitable therapeutic approach for all three variants, and the topic warrants further study. The full abstract is available here.

The below transcript has been condensed and lightly edited for clarity.

Hoda Shamsnajafabadi, MSc, PhD: Hi, I'm Hoda, a postdoctoral scientist from Oxford University. I'm very pleased to get invited to EURETINA 2024. I was awarded the August Deutman prize because of the presentation that I brought here. It was about the CRISPR approach for treatment of CRB1-related retinal dystrophy.

Overall, I presented three case reports of CRB1, with early-onset cone-rod dystrophy. We offer CRISPR-based editing as an approach for the treatment of CRB1 diseases for further study. The process of selection of the patients for CRISPR studies is time-consuming. We need to develop new tools to reduce that time, make it faster, and to find a way for editing the variants, making it easier, faster and possible on a larger scale. I hope that, from my presentation, people have a few of how CRISPR editing could edit variants in future studies.

One thing I will remember about this conference is that all of our research group are here. I have a very nice memory of this because all of us support each other, and when I presented, all of them were in my presentation, even my Professor, Robert MacLaren. It was very nice. I was very emotional that all found the time for me and supported me that much.