A silencing reporter system to discover factors and pathways implicated in D4Z4 repression in Facioscapulohumeral dystrophy

Investigators: Ellen M Paatela, Stephen Tapscott MD PhD

Category: Research - Basic

Mentor: Stephen J Tapscott

Total proposal: $83,993

DUX4, the causative gene of FSHD, is normally silenced in muscle cells by a complex mix of genetic and epigenetic factors. However, many of these factors and the mechanisms by which they initiate and maintain silencing of DUX4 are still unknown. My project focuses on the development of a functional silencing assay that can be used to identify the pathways and factors that silence DUX4 expression. My silencing assay will also provide a simple and robust tool for screening potential FSHD therapeutics.