NEWPORT BEACH, Calif., October 7, 2016: CureDuchenne, a nonprofit dedicated to funding research and improving patient care for Duchenne muscular dystrophy, will host a webinar with Dr. Kevin Flanigan from Nationwide Children’s Hospital on October 12 at 4 p.m. ET/ 1 p.m. PT. The webinar is an opportunity for the Duchenne community to learn the most recent status of Dr. Flanigan’s duplication mutation research. Dr. Flanigan will present new data on his duplication 2 research.
Dr. Flanigan’s team began by studying exon skipping as a potential therapy for duplicated exons. What began as a novel therapy for skipping the most common duplication – exon 2 – led him and his team to uncover a novel element in the gene that creates a shorter, highly functional version of the dystrophin protein. This element, called an internal ribosome entry site (IRES), allows translation of a protein from a starting site within exon 6. It gives a large therapeutic window for the idea of skipping exon 2. These results not only provide a great deal of confidence in the usefulness of this approach for patients with duplications of exon 2, but may provide a route to therapy for patients with many different mutations within the first 5 exons of the gene. CureDuchenne has provided the lead funding for Dr. Flanigan’s duplication research.
Dr. Flanigan is an attending neurologist at Nationwide Children’s and Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Flanigan is a principal investigator in the Center for Gene Therapy in The Research Institute at Nationwide Children’s, and a leading expert in Neuromuscular Disorders. The webinar will be moderated by Dr. Mike Kelly, CureDuchenne’s Chief Scientific Advisor.
Duchenne muscular dystrophy is a fatal genetic disease that causes muscle degeneration and affects 1 in 3,500 boys. Boys with Duchenne are usually diagnosed by age 5, lose their ability to walk by age 12 and most don’t survive their mid-20s.
To register for the webinar on October 12, click here. The call in number is (844) 337-8088 and conference ID is 95224831.
CureDuchenne was founded in 2003 with a focus on saving the lives of those with Duchenne muscular dystrophy, a disease that affects more than 300,000 children and young adults worldwide. With support from CureDuchenne, nine research projects have advanced to human clinical trials. CureDuchenne also brings physical therapy and standard of care to local communities around the country through its CureDuchenne Cares program. For more information, please visit CureDuchenne.org and follow us on Facebook, Twitter, Instagram and YouTube.