UCLA Researchers Published in “Human Mutation” Journal

From left to right: Stanley Nelson, Carrie Miceli, Emilie Douine, Florian Barthélémy, and Richard Wang.
By The Center for Duchenne Muscular Dystrophy at UCLA
1 min read

Research Illustrates Value of Disease Registries in Scientific Discovery

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.

Read "DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype"