# Implementing genomic medicine in clinical care of deaf patients

> **NIH NIH R01** · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · 2022 · $625,724

## Abstract

Abstract: This continuing proposal will translate basic research utilizing high-throughput genomic approaches and
functional genomics into routine diagnostic and therapeutic tools for non-syndromic hearing loss (NSHL), the most common
type of hearing impairment in children and adults. We have developed a genomic variant detection platform
MiamiOtogenomics - composed of MiamiCapitalArray/MiamiOtoGenes panels/exome (WES)/genome (WGS) and
developed a genotype and phenotype database – MiamiGeneHeal. As shown in the preliminary data, we have already
collected approximately 3,000 DNA samples with phenotypic data from a large international cohort (Miami Otogenetic
Repository) of families with NSHL. Moreover, we have excluded all known HL genes in over 200 families, successfully
identified more than 18 potential new candidate genes, created animal models for human HL, and have generated human
iPSCs from patients with genetic deafness. We will build on these accomplishments and preliminary data by proposing to
complete the following specific aims: 1. Apply an innovative genomics-based MiamiOtogenomics pipeline for NSHL; 2.
Identify factors influencing the decision to pursue and act on genomic testing; 3. Initiate preclinical therapeutic experiments
as a proof-of-concept for potential treatments for HL. The foundation of the proposal will leverage the exceptional genomics
capacity of collaborators at the University of Miami into a genomic-based, minority-focused, diagnostic and treatment
pipeline for HL. The overarching purpose of this application is to transit discoveries made in laboratory to patient care. This
study will translate genomic analysis into clinical hearing screening to elucidate the exact molecular etiology for HL,
which will enable more accurate diagnoses, better quality of care, more effective genetic counseling, as well as improved
cost-effectiveness in medical care. In addition, we expect to contribute significantly to genotype-phenotype studies and to
establish a robust framework for assessing long-term clinical outcomes. Moreover, this study will contribute to our
fundamental understanding of HL. Finally, our innovative preclinical therapeutic experiments in our knockin mouse and
human iPSC models using CRISPR will potentially discover new treatments for HL. This study will inform two important
clinical aspects of precision medicine in USA populations, especially in USA minorities: general acceptance in clinical
practice and clinical utility. We will perform one of the largest and most integrated clinical/genomic/functional/novel
therapeutic studies on NSHL to date. Our prior results, the interdisciplinary team's expertise and our established study
infrastructure and population access support feasibility of our Aims.

## Key facts

- **NIH application ID:** 10447693
- **Project number:** 5R01DC012115-10
- **Recipient organization:** UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- **Principal Investigator:** XUE Z LIU
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $625,724
- **Award type:** 5
- **Project period:** 2013-03-08 → 2024-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10447693

## Citation

> US National Institutes of Health, RePORTER application 10447693, Implementing genomic medicine in clinical care of deaf patients (5R01DC012115-10). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10447693. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*