Position

Research Description

We are investigating the molecular mechanisms leading to facioscapulohumeral muscular dystrophy (FSHD) pathology.  FSHD, the most prevalent muscular dystrophy afflicting children and adults, is caused by a dominant deletion in a macrosatellite repeat array at chromosome 4q35 leading to an epigenetic dysregulation of gene expression.  We are using the early development of Xenopus laevis to 1) test the effect of mis-expression of FSHD candidate genes on the development of the vertebrate musculature and vasculature and 2) determine the normal developmental role of FSHD candidate genes.