Researchers Create New Mouse Model for Duchenne with Duplication of Exon 2

Dr. Kevin Flanigan and his team at the Flanigan Lab at Nationwide Children’s Hospital are hard at work researching duplication mutations. They have created a new mouse model for Duchenne muscular dystrophy with a duplication of exon 2. Their research was recently published in Neuromuscular Disorders (http://www.ncbi.nlm.nih.gov/pubmed/26365037).

“CureDuchenne funded our research early on and was a catalyst that enabled us to move forward with our research on this project,” said Dr. Flanigan, Investigator, Center for Gene Therapy, Nationwide Children’s Hospital. “We are grateful that CureDuchenne funds research to find treatments for all those with Duchenne, including rare mutations.”

Exon duplication mutations are thought to account for up to 11% of all cases of Duchenne muscular dystrophy, and the duplication of exon 2 is thought to be the most common one seen in patients. The absence of a duplicated exon mouse model has hindered approaches to the development of novel exon skipping strategies for these patients.

A new mouse model has been created, that for the first time features an exon duplication model of Duchenne muscular dystrophy. Importantly, this new duplicated exon 2 mouse shows many of the similarities seen in the mdx model and will now allow drug development approaches to advance for patients with duplicated exons at a much faster rate.

Learn more about the science and watch this video that features a family who son could benefit from Dr. Flanigan’s research.

We are very pleased to see Dr. Flanigan’s work progress and proud to have supported his research on duplication and rare mutations from the beginning. We will continue to support his research with the intent to move this forward as quickly as possible. Thank you to the families and other donors who helped fund this important research.

If you would like more information or if you’d like to help support duplication and rare mutation research, please send me your son’s exact mutation:  debra@cureduchenne.org. The more we can rally together, the more we can develop drugs to treat all those will Duchenne.