DMD: New Strategy Aims to Change Dystrophin DNA

MDA-supported researcher Charles Gersbach and colleagues have developed a strategy to change dystrophin DNA that has shown promise in the lab

Article Highlights:
  • Changing dystrophin DNA using a strategy known as CRISPR-Cas9 genome editing could, if successful in humans, bring about a permanent change in dystrophin genes, potentially prolonging quality and length of life in Duchenne muscular dystrophy patients.
  • MDA grantee Charles Gersbach and colleagues have shown that removing a large section of DNA from the dystrophin gene – an approach that could help about 60 percent of DMD patients – is possible and potentially beneficial; they conducted laboratory experiments in cells and mice.
  • The goal of dystrophin genome editing is to coax cells to produce shorter-than-normal, but still functional, dystrophin protein, in muscle tissue without a need for continuous treatment over a patient's lifetime.
by Margaret Wahl on February 26, 2015 - 11:30am

MDA research grantee Charles Gersbach, assistant professor of biomedical engineering at Duke University, and colleagues, recently announced an advance in gene modification that could turn out to be a game-changer for boys and young men with Duchenne muscular dystrophy (DMD). The team's results were published Feb. 18, 2015, in Nature Communications, and Gersbach will discuss their implications at MDA's 2015 Scientific Conference, to be held March 11-14 in Washington, D.C.

Potential for a permanent fix in 60 percent of DMD population

Gersbach is developing a new strategy called genome editing to modify flawed instructions in the dystrophingene.  Dystrophin gene editing, which has so far shown promise in the laboratory in cultured cells and in mice, is designed to target and remove a large section of DNA from the dystrophin gene – an approach that could be beneficial to some 60 percent of DMD patients and could be developed as a permanent, one-time treatment. Known more specifically as CRISPR-Cas9 genome editing, the strategy is designed to cause production of shorter-than-normal, but still functional, dystrophin protein in muscle tissue. If successful in humans, it could prolong function and increase longevity.

Several drugs that are now being tested in late-stage clinical trials for DMD, such as eteplirsen and drisapersen, target dystrophin RNA rather than DNA, which would not bring about a permanent correction and would presumably need to be given repeatedly over a patient's lifetime.

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