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A new study from the University of Washington has followed the fate of cells that express the FSHD-causing gene, DUX4. The new study, supported by Friends of FSH Research, follows DUX4 in live cells. Wait a second...how do you follow DUX4 in live cells if it's almost impossible to detect? By developing and validating a highly sensitive reporter of DUX4 activity - that's how.
A reporter is a common genetic tool that shines or does something awesome when a gene of interest (in this case, DUX4) is present. The tool allowed Amanda Rickard and Lisa Petek in Dan Miller's lab to follow the fate of DUX4-expressing cells - and guess what - they don't do so well (the cells, not Amanda, Lisa, and Dan).
Reporters also enable researchers to do nifty things, like separate the DUX4-expressing cells and ask what their fate is, and ask how they are different from their neighboring cells that do not express DUX4.
There are some very tangible pieces of data in this work: