Understanding how Zfp719 mutations cause hearing loss in adults
Pathogenic mechanisms of adult hearing loss caused by Zfp719 mutations
['FUNDING_R01'] · UNIVERSITY OF PENNSYLVANIA · NIH-10986857
This study is looking into how certain gene changes, especially in the Zfp719 gene, might cause hearing loss in adults, and it aims to help people understand the genetic reasons behind this common issue.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-10986857 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic causes of adult-onset hearing loss, particularly focusing on mutations in the Zfp719 gene. By utilizing a genome-first approach and studying a biobank cohort, the researchers aim to identify rare genetic variants that contribute to hearing loss. They will also conduct functional studies in mice to explore the effects of these mutations on inner ear function. This work seeks to fill the knowledge gap regarding the genetic factors involved in hearing loss among adults, which is often overlooked compared to children.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults experiencing unexplained hearing loss, particularly those with a family history of hearing issues.
Not a fit: Patients with hearing loss due to non-genetic factors or those who do not have mutations in the Zfp719 gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for genetic hearing loss in adults.
How similar studies have performed: Other research has successfully identified genetic causes of hearing loss, suggesting that this approach has the potential for meaningful discoveries.
Where this research is happening
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: EPSTEIN, DOUGLAS J — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: EPSTEIN, DOUGLAS J
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.