Summary
At Save Sight Now Europe, we are committed to accelerating the development of treatments for Usher Syndrome Type 1B. We are excited to share a major milestone from one of the projects we have been supporting, led by Dr. David Gamm and Dr. Celia Bisbach at the University of Wisconsin-Madison. Their work has successfully developed a groundbreaking MYO7A-HA cell line that could play a key role in advancing potential therapies for USH1B-related blindness.
Understanding MYO7A to Advance USH1B Therapies
The goal of this project is twofold:
1. To gain a deeper understanding of the molecular causes of USH1B by studying MYO7A’s function and interactions in human photoreceptor cells.
2. To develop an FDA-acceptable potency assay to ensure the quality and effectiveness of future USH1B therapies.
Dr. Gamm’s lab has successfully engineered retinal organoids—lab-grown mini-retinas—that express MYO7A under natural physiological conditions. These organoids allow researchers to study how MYO7A functions in photoreceptors and determine which other proteins interact with it.
Three Key Objectives of the Study
- Confirm MYO7A’s Location in Human Photoreceptors: using these newly developed organoids, researchers can now track MYO7A’s exact localization in photoreceptors. Early findings show that MYO7A-HA concentrates near the ciliary rootlet, which plays a critical role in photoreceptor function.
- Identify Proteins that Interact with MYO7A: by enriching and isolating MYO7A-HA protein from these retinal organoids, the team is actively identifying retina-specific interacting proteins. This knowledge will provide deeper insight into the mechanisms of USH1B and guide future therapeutic strategies.
- Develop a Potency Assay to Support Therapy Development: one of the most exciting outcomes of this project is the development of a Proximity Ligation Assay (PLA). This versatile and reproducible potency assay will serve as a quality control tool for gene, genome, and RNA-based therapies, ensuring they meet the rigorous standards required for regulatory approval.
Why This Matters
For families affected by Usher Syndrome Type 1B, vision loss remains a major challenge. By funding projects like this, we are helping researchers develop the tools necessary to move from discovery to real-world treatments. The potency assay being developed will play a crucial role in ensuring that future USH1B gene therapies are both safe and effective, bringing us closer to clinical application.
Next Steps
With these promising results, we are working closely with Dr. Gamm’s team to explore the next steps needed to accelerate progress and ensure the project has the maximum impact on future USH1B therapies.
Your support makes this possible. Together, we are moving closer to a future where blindness caused by Usher Syndrome can be prevented.
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