Kim Boua

MSTP in PhD Training

Program: Neurosciences

Current advisor: Harrison W. Gabel, PhD

Undergraduate university: Duke University, 2019

Enrollment year: 2021

Research summary
The Molecular and Functional Consequences of loss of DNA Methyltransferase, DNMT3A

The goal of my project is to understand how loss of DNMT3A in the brain leads to behavioral and functional consequences that have been well characterized by our lab in our mouse model.

Mutations in DNMT3A, a DNA methyltransferase DNMT3A lead to an overgrowth syndrome – Tatton Brown Rahman Syndrome (TBRS). I am doing some work trying to understand the functional consequences of loss of this protein in how neurons behave and circuit-level brain changes. We have several mouse models of DNMT3A that are Heterozygous KO and Conditional KOs in neurons that mirror mutations found in humans. Using novel technologies in spatial transcriptomics, we will use our models to understand how the brain changes a result of loss of the developmentally signicant protein, DNMT3A.

Graduate publications