We are so happy to support the work of Dr. Toshifumi Yokota at the University of Alberta, in Canada. Exon skipping looks promising as a viable therapeutic for Duchenne. Dr. Yokota is taking the process several steps forward by experimenting with skipping multiple exons. If successful, a large percentage of the Duchenne population could be effectively treated. PPMD has long supported the development of exon skipping and this project will lay the groundwork for the next generation of exon-skipping. Congratulations to Dr. Yokota, and thank you!
Parent Project Muscular Dystrophy Awards $50,000 to Dr. Toshifumi Yokota for Multi-Exon Skipping Project
University of Alberta Professor to be Given Grant to Continue Potentially Groundbreaking Work in Duchenne Muscular Dystrophy
HACKENSACK, N.J., Sept. 27, 2012 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD) announced today that it will award the University of Alberta's Toshifumi Yokota, Ph.D. a $50,000grant to continue his work in exon skipping as a potential therapy for Duchenne muscular dystrophy. Dr. Yokota is the Assistant Professor and Research Chair in Muscular Dystrophy for the Canadian university's medical genetics department.
Oligonucleotides are short pieces of DNA with a chemical "backbone" used by scientists seeking to repair the deficient genetic code in the dystrophin gene. Unlike traditional gene therapy approaches, scientists are not attempting to replace the dystrophin gene; instead, they want the muscle cell to ignore the defective part of the gene and make a smaller (but still functional) version of dystrophin. This research strategy is known as exon skipping. To date, several drugs are in phase II and III clinical testing that are designed to skip Exon 51 in particular, which would only potentially benefit the small percentage of those with Duchenne whose dystrophin could be repaired by skipping that particular exon.
Dr. Yokota is developing a multi-exon skipping approach to skip all exons 45-55 at once in a Duchenne mdx mouse model. In theory, an exon 45-55 multiple exon skipping could cover over 60% of patients with deletion mutations. Although this approach would remove a larger portion of the dystrophin gene, people with naturally occurring mutations that result in the loss of exons 45-55 have very mild or no symptoms, suggesting that this is a feasible strategy.
PPMD's Senior Research Director, Sharon Hesterlee, Ph.D., spoke about the importance of Dr. Yokota's work: "PPMD supported the development of the technique of exon skipping when it was still just an interesting idea to try with cells in a dish and has been very gratified to see this work be translated into a real drug approach for Duchenne. Dr. Yokota is taking this potential therapeutic a step further, by experimenting with skipping multiple exons. If successful, a large percentage of the Duchenne population could be effectively treated. It is part of PPMD's mission to fund progressive, cutting-edge research like Dr. Yokota's that helps as much of the patient community as possible. We are excited to award this grant and lay the groundwork for the next generation of exon-skipping."
Dr. Yokota is excited by the interest he has received for this work thus far and is grateful for PPMD's support: "PPMD understands the importance of taking risks and thinking outside the box if it means moving closer towards a therapy that will end Duchenne. The support of PPMD and an institution like the University of Alberta makes my work possible. I believe in the potential of exon skipping and will continue to push ahead to help this generation of people with Duchenne."
For more about Parent Project Muscular Dystrophy's grant program, as well as a comprehensive list of what we are funding, please visit ParentProjectMD.org/Research.
About Duchenne muscular dystrophy
Duchenne, the most common form of childhood muscular dystrophy, is a progressive and fatal muscle disorder affecting boys and young men that causes the loss of muscle function, wheelchair dependency and a decline in respiratory and cardiac function.
About Parent Project Muscular Dystrophy
Duchenne is a fatal genetic disorder that slowly robs young men of their muscle strength. Parent Project Muscular Dystrophy is the largest most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne muscular dystrophy—our mission is to end Duchenne.
We invest deeply in treatments for this generation of young men affected by Duchenne and in research that will benefit future generations. We advocate in Washington, DC, and have secured hundreds of millions of dollars in funding. We demand optimal care, and we strengthen, unite, and educate the global Duchenne community.
Everything we do—and everything we have done since our founding in 1994—helps boys with Duchenne live longer, stronger lives. We will not rest until every young man has a treatment to end Duchenne. Go to www.ParentProjectMD.org for more information or to learn how you can support our efforts and help families affected by Duchenne.
Sharon Hesterlee, Ph.D.
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