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Phoenix666 [soylentnews.org] writes:

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 [sciencedaily.com] -- 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.
...
In 2010, Frewing, president of the Kurt+Peter Foundation, began proactively looking for scientists researching Limb Girdle Muscular Dystrophy Type 2C and similar forms of muscular dystrophy, with hope of supporting research to find a treatment. When Frewing approached McNally in 2010, she was one of the only researchers worldwide working on the disease. Frewing had heard of exon skipping and wondered if it would work for his boys. McNally didn't think that exon skipping would make the tiny relevant protein in the disease functional. But, after Frewing persisted, she did a predictive analysis, which showed that that less than half of the protein would be left, but that three key parts of the protein remained. The Kurt+Peter Foundation has provided annual grants to fund further evaluation and development of this potential therapy.

"There are always new ways to treat a disease, and sometimes it is the patients and families who push us to think of these," McNally said. "This partnership is a perfect example of how precision medicine can help address very rare diseases."

Echoes of Lorenzo's Oil.

Original Submission