Improving genetic testing for hearing loss
Official title: Optimizing Genetic Testing for Deafness for Clinical Diagnostics
Funded at University of Iowa · NIH-11287856 · Data updated 2026-11-12
This project works to make genetic test results clearer and more useful for people with inherited hearing loss.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Iowa NIH-funded |
| Lab location | 1 site (Iowa City, United States) |
| Project start | September 21, 2011 |
| Project end | January 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $579,133 |
| NIH project number | 5R01DC012049-15 |
| Project ID | NIH-11287856 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with non-syndromic hereditary hearing loss, unexplained genetic test results, or a family history of hearing loss are the ideal candidates.
✕Less likely to help
People whose hearing loss is clearly due to non-genetic causes (for example, noise exposure or infection) or who lack genetic testing data may not benefit directly.
What this research studies
The team combines detailed hearing-test patterns (audiograms) with genetic data using tools like AudioGene and OtoSCOPE to define how different genes cause hearing loss over time. They will complete gene-specific natural history studies and expand the Deafness Variation Database with physics-based protein modeling to improve variant interpretation. The project uses hierarchical surface clustering to look for genetic modifiers that change how a deafness gene affects hearing. The goal is clearer, gene-focused reports that help guide care and identify people for future gene-specific treatments.
Why it matters
Potential benefit: If successful, patients could receive more accurate genetic diagnoses, clearer prognoses, and better guidance for personalized care or future gene-targeted therapies.
How similar studies have gone: Previous work using AudioGene, OtoSCOPE, and the Deafness Variation Database has improved genetic interpretation, and this project builds on those successful tools.
Where this research is happening
-
University of Iowa
Iowa City, United States Active
Researchers
- Principal investigator: Smith, Richard J.h. — University of Iowa
- Study coordinator: Smith, Richard J.h.
Related research
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Researchers are trying to identify genetic causes of hearing loss present at birth or in early childhood to enable earlier, DNA-based diagnoses and future gene-based therapies.
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Optimizing how CI users hear in busy real-world environments
This grant studies how to improve speech understanding and spatial hearing for people using cochlear implants, especially those with implants in both ears or with single-sided deafness.
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How Usher-1 proteins in inner-ear hair cells affect hearing
This project looks at how key Usher-1 proteins help tiny hair cells in the inner ear work and how problems in these proteins lead to inherited hearing and vision loss for people with Usher syndrome.
-
CRISPR-based exon-skipping to treat Usher syndrome deafness
A gene-editing approach using CRISPR techniques to fix faulty exon regions in Usher syndrome patients to protect hearing and balance functions.
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.