NEWPORT BEACH, Calif. -- CureDuchenne, a nonprofit that raises awareness and funds research to find a cure for Duchenne muscular dystrophy, will host an “Update on Duplication Mutation Research for Duchenne Muscular Dystrophy” webinar with Dr. Kevin Flanigan from Nationwide Children’s Hospital on April 6 at 3 p.m. EDT/noon PDT. The webinar is an opportunity for the Duchenne community to learn about Dr. Flanigan’s duplication mutation research. CureDuchenne is also launching a new video that features a Duchenne family’s journey to find a cure for their son and highlights how Dr. Flanigan’s research could help boys with rare duplications of Duchenne.
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 the 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 vector for patients with duplications of exon 2, but also provide a potential treatment for any patients with mutations within the first 5 exons of the gene. CureDuchenne has provided the lead funding for Dr. Flanigan’s duplication research and continues to raise money to further fund this critical 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 Michael Kelly, Ph.D., CureDuchenne’s scientific advisor.
“CureDuchenne has always been interested in rare mutations and is pleased to continue to support Dr. Flanigan’s research,” said Debra Miller, founder and CEO of CureDuchenne. “We will continue to fund impactful research until there is a cure for all those who live with Duchenne.”
Duchenne is a progressive muscle-wasting disease that is estimated to impact 1 in 3,500 boys. Boys with Duchenne are usually diagnosed before the age of 5, in a wheelchair by age 12 and most don’t survive their mid-20s. There is currently no cure for Duchenne. CureDuchenne has funded seven research projects that have advanced into human clinical trials.
To register for the “Update on Duplication Mutation Research for Duchenne Muscular Dystrophy” webinar on April 6, click here. The call in number is 844-337-8088 and conference id is 9160395.
About CureDuchenne
CureDuchenne is a national nonprofit organization located in Newport Beach, Calif., dedicated to finding a cure for Duchenne, the most common and most lethal form of muscular dystrophy. As the leading genetic killer of young boys, Duchenne affects more than 300,000 boys worldwide.
CureDuchenne has garnered international attention for its efforts to raise funds and awareness for Duchenne through venture philanthropy. With the help of CureDuchenne’s distinguished international panel of Scientific Advisors, funds raised by CureDuchenne support the most promising research aimed at treating and curing Duchenne. To date, seven CureDuchenne research projects have advanced into human clinical trials – a unique accomplishment as few health-related nonprofits have been successful in being a catalyst for human clinical trials.