Dr. Flanigan’s Duplication 2 Duchenne Mutation – Nature Medicine

We are very excited to see that Dr. Kevin Flanigan’s work on a rare Duchenne mutation, a duplication on exon 2, was published in Nature Medicine.  This prestigious magazine reported on two advances in his current work which was supported by CureDuchenne.

The first was the successful creation of a new mouse model of Duchenne that contains a duplication of exon 2 and the second was the identification of a novel internal ribosome entry site (IRES) within the 5’ coding region of the DMD gene. Taken together, these advances could provide a route forward to therapy.

Dr. Flanigan has always had an interest in understanding Duchenne mutations and we were very happy to support his work in 2011 when he proposed this project to study this rare mutation.  Not only does this work give hope to duplication mutations being treated by exon skipping, but it also identifies a small region on the dystrophin gene where all types of mutations can be treated.

We applaud Dr. Flanigan for thinking outside the box and being committed to helping all Duchenne patients.  Rare mutations like these will not be the first that are addressed by biotech and pharmaceutical companies, so collaborations between scientists like Dr. Flanigan and CureDuchenne, will ensure that all Duchenne patients will have an opportunity for a treatment.

It’s researchers like Dr Flanigan and his colleagues at Nationwide Children’s Hospital that will move Duchenne research forward.

We also want to thank our supporters who have helped fund this critical research on duplication mutations. Duchenne parents Tim and Laura Revell have raised money on an ongoing basis to help CureDuchenne fund this research.  They have built relationships and garnered support from former University of Texas coach Mack Brown and his wife Sally, among others. 

One mutation, one exon, one boy at a time…we will not stop until we treat everybody with Duchenne. 


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