Meeting report: the 2020 FSHD International Research Congress
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) spent many years in a wilderness of unexplained genetic mechanism while other monogenic muscular dystrophies saw rapid progress on genetic mechanism soon after their corresponding genes were discovered, with current interventions developed based on these discoveries. While it is now the consensus of the field that aberrant expression of the DUX4 transcription factor is ultimately responsible for FSHD, the linkage of such expression to muscle degeneration through a specific pathological mechanism has proven elusive, a concerning situation for many developing therapies. The 2020 Facioscapulohumeral Muscular Dystrophy (FSHD) International Research Congress, held online, June 25–26, and involving 280 registered participants from 5 continents, revealed strides to bridge this gap, as well as steps toward therapy, including the initiation of the first clinical trial specifically targeting DUX4 expression.
Read the paper
Related studies
- Understanding the factors influencing fall armyworm (Spodoptera frugiperda J.E. Smith) damage in African smallholder maize fields and quantifying its impact on yield. A case study in Eastern Zimbabwe
- Alarming situation of emerging H5 and H7 avian influenza and effective control strategies
- Livestock and food security: vulnerability to population growth and climate change
- Atmosphere–ocean oxygen and productivity dynamics during early animal radiations
- Characterization of the global distribution and diversified plasmid reservoirs of the colistin resistance gene mcr-9
- The global seroprevalence of Toxoplasma gondii in pigs: A systematic review and meta-analysis
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.