Understanding how a specific gene mutation affects human diseases using a mouse model
Official title: Deciphering mechanobiology in human diseases by developing a TMEM63B channelopathy mouse model
Funded at Duke University · NIH-11031805 · Data updated 2026-11-12
This study is looking at a specific change in a gene that can cause health problems like epilepsy and blood disorders, using mice to see how this change affects the body's response to different pressures and conditions, which could help us find better ways to treat these issues in people.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project start | September 1, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $193,101 |
| NIH project number | 1R21OD037849-01 |
| Project ID | NIH-11031805 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with conditions associated with the TMEM63B mutation, such as epilepsy or blood disorders.
✕Less likely to help
Patients without the TMEM63B mutation or those with unrelated health conditions may not benefit from this research.
What this research studies
This research investigates the role of a specific mutation in the TMEM63B gene, which is linked to various human health issues such as epilepsy and blood disorders. By creating a mouse model that mimics this mutation, researchers aim to explore how changes in cellular responses to mechanical and osmotic stimuli can lead to disease. The study will focus on understanding the unique functions of the mutated gene and its implications for human health, potentially leading to new insights into treatment options. Patients may benefit from the findings as they could lead to better understanding and management of conditions associated with this mutation.
Why it matters
Potential benefit: If successful, this research could provide new insights into the mechanisms of diseases linked to the TMEM63B mutation, potentially leading to improved treatments.
How similar studies have gone: Other research has shown success in using mouse models to study gene mutations and their effects on human diseases, indicating a promising approach.
Where this research is happening
-
Duke University
Durham, United States Active
Researchers
- Principal investigator: Yang, Huanghe — Duke University
- Study coordinator: Yang, Huanghe
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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.