November 19th, 2020: 1:00PM ET
This month’s webinar shines a spotlight on an ambitious FSHD genetic study led by Russell Butterfield, MD, PhD and Bob Weiss, PhD of the University of Utah. One of the landmark studies in FSHD involved a 1950 publication involving more than 1200 members of an extended Utah family affected by FSH muscular dystrophy and traced back to a pioneer founder born in 1775. Dr. Butterfield will introduce us to this important FSHD family and the work he and his colleagues are doing now to trace living members and enroll them in their study to identify genetic factors that control variability of symptoms in FSHD. Since all members of the kindred share the same D4Z4contraction causing FSHD, comparing the symptoms between mild and more severe individuals can help us to identify genetic variations that will help us identify factors that influence the severity and progression . These genetic variants can help us understand the basic pathobiology of FSHD and lead to new strategies for treatments.