# Creation of a Schwann Cell Gene Regulatory Network

> **NIH NIH R21** · UNIVERSITY OF WISCONSIN-MADISON · 2022 · $219,930

## Abstract

Abstract. The peripheral neuropathy known as Charcot-Marie-Tooth Disease (CMT1A)
is one of the most common heritable disorders in the nervous system, affecting 1 in
2500 individuals. Tremendous progress has been made in identifying structural and
coding variants that cause this disease, with over 100 genes having mutations
associated with CMT. However, a substantial number of individuals do not have a
definitive genetic diagnosis. The goal of this project is to develop a comprehensive
Schwann cell gene regulatory network model incorporating experimental data on
peripheral nerve with ChIP-seq analyses of TF binding as well as epigenomic
annotations from human peripheral nerve that have recently become available. The
model will incorporate data showing the dynamics of Schwann cell enhancers that have
been shown to become dynamically regulated after peripheral nerve injury. Moreover,
the model will be validated in its ability to identify key regulatory elements using eQTL
analysis. Development of a Schwann cell network model with sufficient resolution to
determine effects on individual enhancers and TF binding sites will be developed for
eventual application to WGS analysis of patient data with peripheral neuropathy,
including not only CMT but also other disorders affecting the peripheral nervous system.

## Key facts

- **NIH application ID:** 10466574
- **Project number:** 1R21NS127432-01
- **Recipient organization:** UNIVERSITY OF WISCONSIN-MADISON
- **Principal Investigator:** John P Svaren
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $219,930
- **Award type:** 1
- **Project period:** 2022-03-01 → 2024-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10466574

## Citation

> US National Institutes of Health, RePORTER application 10466574, Creation of a Schwann Cell Gene Regulatory Network (1R21NS127432-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10466574. Licensed CC0.

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