Summary
Facioscapulohumeral muscular dystrophy (FSHD) is caused by incomplete epigenetic silencing that leads to pathogenic misexpression of the DUX4 gene in skeletal muscle. My research investigates the epigenetic regulation of the FSHD locus and uses knowledge of basic mechanisms to design therapeutic strategies. In my work with Peter and Takako Jones, I uncovered two myogenic enhancers that regulate DUX4, and identified epigenetic activators of DUX4 as novel therapeutic targets. I pioneered a CRISPR inhibition approach for FSHD, using the dCas system to target transcriptional repressors to the disease locus and suppress pathogenic DUX4 expression. I am currently optimizing this platform in ways that are essential for bringing it from a research tool to a clinical gene therapy application.
Education
- B.S., Biochemistry, University of Washington
- Ph.D., Biochemistry, University of Washington