Targeted gene therapy for DFNA9-related hearing and balance problems
Genetic Approach to Therapy for DFNA9
This project uses CRISPR gene-editing on patient cells to remove harmful COCH mutations that cause adult-onset DFNA9 hearing loss and balance problems.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11324984 on NIH RePORTER |
What this research studies
You might be asked to provide a small skin or tissue sample so researchers can grow your cells in the lab and turn them into stem cells and inner-ear organoids. The team will use CRISPR-Cas9 to specifically cut and disrupt the disease-causing COCH mutations p.G88E and p.A449T while preserving the healthy copy of the gene. Those edited cells and organoids will be studied to see if the harmful protein production is stopped and inner-ear cell health improves. The work is done in the lab as a step toward treatments that could be offered in the future.
Who could benefit from this research
Good fit: Adults (21+) who carry the COCH p.G88E or p.A449T mutation and have DFNA9 symptoms or are known carriers would be the ideal candidates for contribution to this work.
Not a fit: People without COCH-related DFNA9, with hearing loss from other causes, or with different COCH mutations are unlikely to benefit from this specific approach.
Why it matters
Potential benefit: If successful, this approach could prevent or slow DFNA9-related hearing loss and balance problems by stopping the harmful effects of the mutant COCH protein.
How similar studies have performed: Related CRISPR-based, allele-specific approaches have shown promise in cells and animal models but are not yet proven as safe and effective treatments in people.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Morton, Cynthia Casson — Brigham and Women's Hospital
- Study coordinator: Morton, Cynthia Casson
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.