Uncovering the genetic drivers and suppressors of DUX4 in FSHD

Investigators: Fran Sverdrup PhD, Rajanikanth Vangipurapu PhD

Category: Research - Basic

Facioscapulohumeral muscular dystrophy (FSHD) is caused mutations that turn on the toxic DUX4 gene in skeletal muscle, causing muscle degeneration. The cellular mechanisms that turn on DUX4 are poorly understood, and the specific factors involved have not been identified. A comprehensive understanding of the factors that regulate DUX4 would be beneficial for designing new therapeutic strategies. The approach outlined in this proposal will enable us to identify the key regulatory factors involved in DUX4 activation, which in turn, could be potential druggable targets as well. We will use a CRISPR-Cas9 APEX-based labeling system combined with proteomic analysis to identify proteins associated with DUX4 activation. This research program will yield a better understanding of the pathogenesis of FSHD and uncover new therapeutic targets.

Note: PI replaced by Dr. Sverdrup 2024-05-17.

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