An RNA editing technique called “exon skipping” has shown preliminary success in treating a rare and severe form of muscular dystrophy that currently has no treatment, based on a new study from Northwestern Medicine and the University of Chicago. Children with the disease lose significant muscle strength early in life.
The discovery stems from the persistence of a father -- Scott Frewing -- whose two sons were diagnosed with a rare and severe form of muscular dystrophy and his search for and partnership with the genetic scientist -- Dr. Elizabeth McNally -- who studies the disease. The rare form of the disease is Limb Girdle Muscular Dystrophy Type 2C.
McNally is director of the Center for Genetic Medicine at Northwestern University Feinberg School of Medicine and the former director of the Institute of Cardiovascular Research at UChicago, which is where she began the research. She also is a physician at Northwestern Medicine.
The new therapy has been licensed to the Kurt+Peter Foundation, which supports Limb Girdle Muscular Dystrophy 2C research and is being developed with the goal of clinical trials and eventual commercial treatments. The boys’ family and friends started the foundation in 2010 to apply promising research to Limb Girdle Muscular Dystrophy Type 2C.
The finding was published Oct. 12 in the Journal of Clinical Investigation.
Originally developed to treat Duchenne Muscular Dystrophy, another form of muscle disease, exon skipping coaxes cells to “skip” over abnormal sections of the genetic code, so that the body can make a functional protein, which in this case, governs muscle function and development.
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