Understanding Channels Linked to Hearing Loss and Brain Disorders
Structure and Function of Mechanosensitive Channels in Inner Ear Hair Cells
This project aims to learn more about special channels in our cells called TMEM63s, which are connected to conditions like hearing loss and certain brain disorders.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11109713 on NIH RePORTER |
What this research studies
This project explores a group of cell channels called TMEM63s, which play a role in how our bodies sense touch and sound. We know that changes in TMEM63A are found in young patients with brain conditions affecting myelin, and changes in TMEM63B are linked to hearing loss, severe brain development issues, and other health problems. By studying the exact shape and function of these channels, especially a specific human variant of TMEM63B, we hope to uncover how they work. This deeper understanding could help us learn why these channels cause disease when they don't function correctly.
Who could benefit from this research
Good fit: This foundational research does not directly involve patient participation at this stage, but future studies stemming from this work may seek individuals with specific genetic mutations in TMEM63A or TMEM63B, or related conditions like hearing loss or leukodystrophies.
Not a fit: Patients without conditions related to TMEM63 channel function, such as hearing loss, leukodystrophies, or neurodevelopmental disorders, would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could provide fundamental insights into the causes of hearing loss, leukodystrophies, and neurodevelopmental disorders, potentially leading to new ways to help patients in the future.
How similar studies have performed: While the general concept of mechanosensitive channels is known, the specific roles and detailed structures of TMEM63 channels in human disease are still poorly understood, making this a novel and foundational approach.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Holt, Jeffrey R — Boston Children's Hospital
- Study coordinator: Holt, Jeffrey R
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.