Topic: gene replacement

A de novo mutation in the DNA methyltransferase 3A gene (Dnmt3a) causes Tatton-Brown-Rahman syndrome (TBRS), a recently described genetic neurodevelopmental disorder that currently has no treatment. Patients display tall stature and intellectual disability. Dnmt3a encodes for the enzymes Dnmt3a1 and Dnmt3a2. These enzymes, according to literature as well as published and unpublished work from our lab, play a crucial role in memory formation in the adult hippocampus. However, how brain and neuronal function is affected in TBRS remains poorly understood. This project aims to bridge this gap of k