# Characterizing genetic modifiers in tumor burden of Tuberous Sclerosis Complex

> **NIH NIH K00** · MICHIGAN STATE UNIVERSITY · 2022 · $87,196

## Abstract

PROJECT SUMMARY 
Tuberous Sclerosis Complex (TSC) is a genetic syndrome that predisposes patients to tumor formation and is often diagnosed during infancy. Brain lesions, including subependymal giant cell astrocytoma (SEGA) and cortical tubers, occur in ~20% of TSC patients and remain challenging to manage as there is extreme phenotypic heterogeneity. In order to better understand and surveil which patients are likely to develop severe brain lesions and associated treatment-resistant epilepsy, this project aims to understand the genotype-phenotype relationships of TSC. I hypothesize that the severity of tumor burden in TSC patients is associated with (and can be predicted by) mutations in specific genetic modifiers. I aim to (1) characterize genetic modifiers that associate with SEGA and cortical tubers and (2) establish biological consequences of mutations in DNA damage repair genes that we have identified in patients with TSC. The research and training plans here are designed to expose me to translational and clinical research studies, analysis of patient -omics data, implementation of CRISPR/Cas9 genome editing, use of two- and three-dimensional human cell models, and metabolic profiling. These skills and the training I receive in this career phase will be essential for my future career as an independent researcher.

## Key facts

- **NIH application ID:** 10359184
- **Project number:** 5K00CA245821-04
- **Recipient organization:** MICHIGAN STATE UNIVERSITY
- **Principal Investigator:** Robert Mark Vaughan
- **Activity code:** K00 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $87,196
- **Award type:** 5
- **Project period:** 2021-03-01 → 2025-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10359184

## Citation

> US National Institutes of Health, RePORTER application 10359184, Characterizing genetic modifiers in tumor burden of Tuberous Sclerosis Complex (5K00CA245821-04). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10359184. Licensed CC0.

---

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