University of Washington
FSH muscular dystrophy (FSHD) is a debilitating adult-onset muscular dystrophy with initial symptoms primarily in the muscles of the face, upper arm, and scapula (see more here). I became interested in FSHD after seeing a patient with the disease in the medical genetics clinic at Children's hospital. I was both moved by the insidious progression of her muscle weakness, and perplexed by the models that had been put forth to explain the disease mechanism. Since that initial encounter I've come to know several people in the Seattle area with FSHD, and interacted with many of their families. This connection has made our focus on this condition both urgent and rewarding adding a whole new dimension to my research program.
See also: http://depts.washington.edu/millab