Novel therapeutics for FSHD

Investigator: Stephen Tapscott MD PhD

Category: Research - Basic

This proposal will address an important question that will inform therapeutic development for facioscapulohumeral dystrophy (FSHD). We will identify the factors and pathways that initiate D4Z4 epigenetic silencing and can determine how these can be directly targeted for new FSHD therapies. Our recent studies showed that a small genomic region near the DUX4 gene is necessary and sufficient to initiate epigenetic silencing. This project will identify the factors and pathways that target this region and regulate the epigenetic repression at the DUX4 gene region. The goal of the project is to identify new targets for therapies that will enhance the activity of this DUX4/D4Z4 epigenetic silencing element.