Understanding Pendrin to Help Children with Hearing Loss
Structure and mechanism of pendrin and the mutations that cause Pendred's Syndrome
This research aims to understand how a protein called pendrin works, which could lead to new ways to help children with a genetic form of hearing loss called Pendred Syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11103314 on NIH RePORTER |
What this research studies
Pendred Syndrome and enlarged vestibular aqueduct syndrome (EVAS) are genetic conditions that cause early childhood hearing loss and are currently without a cure. These conditions are linked to problems with a protein called pendrin, which is important for how cells in the inner ear, thyroid, and kidney manage salts and water. Our current understanding of pendrin is limited because it's been hard to study precisely. This project has successfully purified the pendrin protein and developed new ways to study how it works, including how it moves different ions across cell membranes. By learning more about pendrin's structure and function, we hope to uncover new targets for future treatments.
Who could benefit from this research
Good fit: This foundational research is not directly recruiting patients, but future clinical applications would target children affected by Pendred Syndrome or enlarged vestibular aqueduct syndrome (EVAS).
Not a fit: Patients without Pendred Syndrome or EVAS, or those with other forms of hearing loss not related to the pendrin protein, would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this research could provide fundamental insights into Pendred Syndrome and EVAS, paving the way for the development of new therapies to treat or prevent childhood hearing loss.
How similar studies have performed: Previous studies have highlighted pendrin's role in disease, but this project offers a novel approach by purifying the protein for precise functional and structural studies, which has been a significant challenge.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Quick, Matthias — Columbia University Health Sciences
- Study coordinator: Quick, Matthias
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.