# Uncovering functional nodes of the Rett syndrome transcriptome

> **NIH NIH F30** · UNIVERSITY OF PENNSYLVANIA · 2022 · $34,290

## Abstract

Rett syndrome (RTT) is a severe childhood neurological disorder caused by mutations in the gene
encoding Methyl-CpG-Binding Protein 2 (MeCP2). The molecular mechanisms underlying RTT are poorly
understood, limiting the development of effective therapies. Loss of MeCP2 leads to widespread changes in
gene expression, but it is unclear how these alterations give rise to RTT. This project aims to gain insights into
the molecular basis of RTT through the identification of gene expression changes that are consistent across
development and shared as a consequence of different RTT-causing MeCP2 mutations. Combining cell typespecific
gene expression profiling and functional validation using in vivo CRISPR-based manipulations, these
studies will define the molecular features of the RTT transcriptome, improving our understanding of RTT
pathogenesis and revealing potentially novel targets for therapeutic development. In addition, this proposal
constitutes a comprehensive graduate training plan that includes intellectual and technical research training,
training in scientific communication and mentoring, coursework in bioinformatics and statistics, didactics in
neuroscience, genetics, and epigenetics, as well as clinical training.
Taken together, the studies outlined in this proposal will provide valuable information about the
molecular basis of Rett syndrome and provide the applicant a strong training plan that will help him towards
achieving his goal of becoming an independent investigator studying the pathogenic mechanisms underlying
neurodevelopmental disorders.

## Key facts

- **NIH application ID:** 10534865
- **Project number:** 1F30HD107951-01A1
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** DANIEL CONNOLLY
- **Activity code:** F30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $34,290
- **Award type:** 1
- **Project period:** 2023-03-01 → 2024-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10534865

## Citation

> US National Institutes of Health, RePORTER application 10534865, Uncovering functional nodes of the Rett syndrome transcriptome (1F30HD107951-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10534865. Licensed CC0.

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