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Doctors Richard Wang and Florian Barthélémy recently published an Editor’s Choice article in Human Mutation. They analyzed thousands of participant entries from the Duchenne Registry and found specific genetic mutations that affect disease progression. Based on this data, they showed spontaneous exon skipping could explain why some individuals walk longer than average. This research was done in collaboration with Parent Project Muscular Dystrophy and illustrates the value of disease registries in scientific discovery. Doctors Stanley Nelson and Carrie Miceli, and Emilie Douine participated in the experiments and redaction.
Click below to access article:
https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23561
From left to right: Stanley Nelson, Carrie Miceli, Emilie Douine, Florian Barthélémy, and Richard Wang.
The artwork on the cover of “Human Mutation” was created by Florian Barthélémy.
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