medicalxpress.com
Groundbreaking research introduces a new gene editing technique that could revolutionize treatment for Stargardt disease, aiming to correct genetic mutations responsible for vision loss.
This development is significant because Stargardt disease, a major cause of inherited vision loss, currently lacks effective treatment options. The precision and high efficiency of the gene editing technique could pave the way for clinical applications, offering hope to those affected.
A collaborative research effort has resulted in a promising new gene editing approach targeting Stargardt disease, a leading cause of inherited vision loss. The research, led by Professors Bence György and Botond Roska, in conjunction with Beam Therapeutics, has demonstrated high editing efficacy in human and primate retinal tissues utilizing base editing technology. This technique specifically corrects mutations in the ABCA4 gene, which are responsible for the disease, with observed correction rates of 75% in cone cells and 87% in retinal pigment epithelial cells. The study, published in Nature Medicine, also highlights the broad potential of this technique to address other genetic forms of retinal degeneration.
Stargardt disease is an inherited condition affecting the retina, primarily causing vision loss in young individuals. It is characterized by mutations in the ABCA4 gene, leading to the accumulation of toxic substances in retinal cells.
“The most common monogenic form affecting 1 in 6,500 individuals is Stargardt disease.” - Alissa Muller
This genetic commonality provides a clear target for therapies aiming to halt or reverse the degenerative process inherent in Stargardt disease. Addressing the root genetic causes offers a pathway to impactful treatments.
Base editing allows for precise modification of specific nucleotides in the DNA, minimizing the risk of off-target effects. This technique has been effectively applied to correct mutations in the ABCA4 gene linked to Stargardt disease.
Compared to traditional gene editing, which often involves cutting DNA strands, base editing provides a more refined approach, potentially reducing adverse consequences.
“We conducted extensive off-target analyses and found no evidence of unintended edits.” - Alissa Muller
This confidence in the precision of base editing paves the way for its application in clinical settings, offering a safer and potentially more effective treatment strategy.
The study reports successful correction of ABCA4 mutations in human retinal models, underscoring the potential for real-world applications. These findings suggest that gene editing could soon move from research to treatment in clinical contexts.
Researchers noted the therapy's translational potential, with successful trials in human tissue suggesting a path forward to clinical applications.
“These rates far exceed what we believe is necessary to provide clinical benefit to patients.” - Bence György
The next steps involve further safety evaluations and initiating clinical trials, aiming to bring this innovative treatment to patients who currently have limited options.
Muller, A. et al. (2025). High-efficiency base editing in the retina in primates and human tissues. Nature Medicine. https://doi.org/10.1038/s41591-024-03422-8
University of Basel (2025). Precision gene editing could prevent vision loss from Stargardt disease. Medical Xpress. https://medicalxpress.com/news/2025-01-precision-gene-vision-loss-stargardt.html