# Project 2: Wilkerson

> **NIH NIH P20** · MEDICAL UNIVERSITY OF SOUTH CAROLINA · 2024 · $251,667

## Abstract

PROJECT 2 – PROJECT SUMMARY
Autism spectrum disorder (ASD) occurs in 1 in 54 US children and often features hearing impairments such as
hyperacusis, auditory processing disorders and sensorineural hearing loss, along with difficulties in social
communication. The Center of Biomedical Research Excellence in Neurodevelopment and its Disorders (CNDD)
supports the cross-cutting, innovative research needed to advance fundamental understanding of the unique
hearing impairments and pathophysiology of the auditory system in ASD and their role in social communication.
This research studies the role of the peripheral auditory system in the development of hearing impairments and
ASD-like behaviors in a mouse model of Fragile X Syndrome (FXS), the most common monogenetic type of
ASD. We hypothesize that hearing impairments in FXS are due in part to defects in the cochlea and to
dysfunction in both neuronal and non-neuronal Fmr1-expressing cells including sensory hair cells, but also other
nonsensory cells in the inner ear. Aim 1 tests methods to rescue hearing function and mitigate related ASD-like
behaviors in the developing Fmr1 knockout (KO) mouse and Aim 2 investigates the pathophysiological changes
in cellular composition and cell type-specific gene expression patterns in the Fmr1 KO cochlea by single nucleus
RNA-seq (snRNA-seq). Our findings could provide (1) new evidence about the role of peripheral sensory deficits
in ASD-related symptoms, (2) critical new insights into the role of neuronal vs. non-neuronal FMRP functions in
cochlear development and auditory function and (3) test a gene therapeutic approach to possibly rescue auditory
function and/or reduce communication-related symptoms of ASD. To understand how gene networks in the
peripheral auditory system are deregulated in ASD, this research uses omics approaches for systematic mapping
of complex genetic networks. Study of the fundamental processes that contribute to hearing differences in ASD
could identify therapeutic strategies to resolve hearing differences and related language and social
communication challenges. Critical components of the CNDD for this project are cores for neurobehavioral
phenotyping, in vivo imaging, and bioinformatics, advanced biostatistical consulting, and also significant
resources for research capacity and training including career development mentorship and tools for
advancement to independence and success in obtaining R01-level funding to continue research in the
pathophysiology of the auditory system in ASD.

## Key facts

- **NIH application ID:** 10814761
- **Project number:** 5P20GM148302-02
- **Recipient organization:** MEDICAL UNIVERSITY OF SOUTH CAROLINA
- **Principal Investigator:** Brent Allen Wilkerson
- **Activity code:** P20 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $251,667
- **Award type:** 5
- **Project period:** 2023-04-01 → 2028-02-29

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10814761

## Citation

> US National Institutes of Health, RePORTER application 10814761, Project 2: Wilkerson (5P20GM148302-02). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10814761. Licensed CC0.

---

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