Investigator: Kathryn R Wagner MD PhD
Category: Research - Clinical
This is a proposal to study the histopathological features of muscle in a large biobank from FSHD patients and their first degree family members. By establishing a detailed morphometric signature of FSHD, we will be able to develop muscle pathology as an outcome measure in future clinical trials. Further, by correlating specific features such as degeneration and inflammation with DUX4 expression, we will be able to determine whether DUX4 has a primary or secondary effect on muscle pathology.