Genetics and epigenetics of otosclerosis
The genomic and epigenomic landscape of otosclerosis
This project looks for genetic and epigenetic changes that cause otosclerosis to help explain and someday reduce hearing loss in adults.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Arizona NIH-funded |
| Lab location | 1 site (Tucson, United States) |
| Project ID | NIH-11301883 on NIH RePORTER |
What this research studies
If you have otosclerosis or a family history, researchers will use DNA and other samples from many affected people and families to find gene changes and epigenetic marks linked to the condition. They will apply modern genomic sequencing and epigenomic profiling techniques to compare affected and unaffected individuals. The team is working with a large, already-collected cohort that lets them search for inherited and new mutations as well as age-related epigenetic patterns. Findings could point to biological pathways that explain why the otic capsule bone remodels abnormally in otosclerosis.
Who could benefit from this research
Good fit: Ideal participants are adults with a clinical diagnosis of otosclerosis—especially those with bilateral disease or a family history—who can provide DNA, medical records, or hearing test results.
Not a fit: People without otosclerosis or whose hearing loss is due to unrelated causes are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could improve diagnosis and point to new targets for therapies to prevent or slow hearing loss from otosclerosis.
How similar studies have performed: Previous genetic work has identified some candidate genes and links to other bone disorders, but the epigenetic approach in otosclerosis is relatively new and less tested.
Where this research is happening
Tucson, United States
- University of Arizona — Tucson, United States (Active)
Researchers
- Principal investigator: Schrauwen, Isabelle Veerle Suzanne — University of Arizona
- Study coordinator: Schrauwen, Isabelle Veerle Suzanne
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.