FSHD

PNAS 2020 117(28)16509-16515

Facioscapulohumeral muscular dystrophy (FSHD) is a common inherited muscle disorder that leads to weakness and atrophy of various muscle groups. There is currently no effective treatment for FSHD. The disease is caused by abnormal production of the protein DUX4 in muscle cells.

Targeting DUX4 expression is a promising therapeutic strategy and our recent study has identified potential treatments such as LNA gapmers and 2’MOE gapmers. We are currently testing the delivery of these treatments using lipid nanoparticles in collaboration with Dr. Pieter Cullis to identify the most effective treatment and delivery system for FSHD.

Last updated: 21 January, 2023