# Transcription factor mutationsunderlying birth defects or pediatric cancers

> **NIH NIH R03** · BRIGHAM AND WOMEN'S HOSPITAL · 2020 · $179,000

## Abstract

ABSTRACT
The interactions between transcription factor (TFs) and their DNA binding sites are an
integral part of the gene regulatory networks within cells. These interactions control
critical steps in development and cell cycle control. Mutations in TFs can result in a wide
range of structural birth defects or cancers through the dysregulation of gene
expression.
The Pediatric Data Resource Center established by the Gabriella Miller Kids First
(GMKF) Pediatric Research Program (Kids First) provides genome sequence and
phenotype data for studies investigating the genetics of childhood cancers or structural
birth defects. Analysis of the GMKF data are needed to identify and annotate genetic
variants associated with these major pediatric diseases.
The goals of this project are: (1) to analyze genome sequence data from patients with
structural birth defects made available as part of the Kids First Data Resource to identify
genetic variants predicted to damage the ability of TFs to bind their DNA target
sequences; and (2) to perform biochemical assays on a prioritized set of the TF coding
variants to characterize their putatively damaged DNA binding activities.
We anticipate our results will help to identify pathogenic variants contributing to
structural birth defects or pediatric cancers, reveal mechanisms by which such variants
may dysregulate gene expression leading to these disorders, lead to refined genomic
diagnostics, and provide data on the mutant TFs’ altered DNA binding activities as a
resource to the community.

## Key facts

- **NIH application ID:** 10004146
- **Project number:** 5R03HD099358-02
- **Recipient organization:** BRIGHAM AND WOMEN'S HOSPITAL
- **Principal Investigator:** MARTHA L BULYK
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $179,000
- **Award type:** 5
- **Project period:** 2019-09-01 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10004146

## Citation

> US National Institutes of Health, RePORTER application 10004146, Transcription factor mutationsunderlying birth defects or pediatric cancers (5R03HD099358-02). Retrieved via AI Analytics 2026-06-01 from https://api.ai-analytics.org/grant/nih/10004146. Licensed CC0.

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