# Non-Syndromic Hearing Loss – A Collaborative Study

> **NIH NIH R01** · UNIVERSITY OF IOWA · 2020 · $636,564

## Abstract

Project Summary
Recent advances in molecular technologies have enhanced our ability to identify genetic forms of
hearing losses with several important consequences. First, the incorporation of genetic testing
into diagnostic algorithms has improved clinical care for deaf/hard-of-hearing persons. As more
deafness-associated genes are identified and incorporated into these panels, further
improvements in clinical care will follow. Second, because the genetic spectrum of non-syndromic
hearing loss (NSHL) has been better defined, epidemiological studies of genetic deafness are
possible. These studies can be used to define knowledge gaps in our understanding of genetic
hearing loss. Third, the identification of genes required for normal auditory function provides
insight into inner ear physiology at the molecular level. This insight is foundational to the
development of novel therapies to treat deafness. During the 09/01/2014-08/31/2019 grant period,
we built on prior successes to advance our understanding of NSHL by focusing on two specific
aims.
• Specific Aim 1: To identify genetic variants in regulatory elements of deafness-associated
 genes that contribute to NSHL
• Specific Aim 2. To compare simple and complex haplotypes in two well-defined populations –
 one with age-related hearing loss (ARHL) and one with normal hearing – to identify whether
 common variants in deafness-associated genes contribute to ARHL
In this competitive renewal, our overarching goals are to further improve the clinical care of persons
with hearing loss and provide a more robust foundation for therapies that target specific types of
genetic hearing loss. We will achieve these goals by addressing current knowledge gaps as
reflected in the following specific aims:
• Specific Aim 1: We will identify novel deafness-associated genes
 Hypothesis: By leveraging whole genome sequencing and structured bioinformatic analyses in
 carefully selected cohorts, we will optimize our ability to identify novel deafness-associated
 genes. The role of these genes in the biology of hearing and deafness will be validated using
 animals models of hearing loss.
• Specific Aim 2: We will resolve hidden heritability and complexity in known deafness-
 associated genes
 Hypothesis: A wealth of unidentified and unrecognized complexity lies at the variant level in
 known deafness-associated genes. Examples include the unrecognized effect of missense
 variants of low predicted pathogenicity, the pathogenicity of synonymous variants, and the
 pathogenicity of non-coding variants.
The completion of these aims will refine our understanding of the biology of hearing and deafness,
improve clinical care for persons with hearing loss, provide a better genetic foundation for
precision medicine for the hearing impaired, and identify new targets for gene therapy for
deafness.

## Key facts

- **NIH application ID:** 9884372
- **Project number:** 2R01DC002842-24
- **Recipient organization:** UNIVERSITY OF IOWA
- **Principal Investigator:** Richard J.H. Smith
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $636,564
- **Award type:** 2
- **Project period:** 1996-09-30 → 2024-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9884372

## Citation

> US National Institutes of Health, RePORTER application 9884372, Non-Syndromic Hearing Loss – A Collaborative Study (2R01DC002842-24). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9884372. Licensed CC0.

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