'Butterfly disease' makes the skin incredibly fragile, but a new gene therapy helps it heal

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'Butterfly disease' makes the skin incredibly fragile, but a new gene therapy helps it heal
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Nicoletta Lanese is a staff writer for Live Science covering health and medicine, along with an assortment of biology, animal, environment and climate stories. She holds degrees in neuroscience and dance from the University of Florida and a graduate certificate in science communication from the University of California, Santa Cruz. Her work has appeared in The Scientist Magazine, Science News, The San Jose Mercury News and Mongabay, among other outlets.

"Butterfly disease" is a rare genetic condition that causes people's skin to bubble up in blisters under the slightest pressure. Now, in a late-stage clinical trial, researchers have shown that a gel containing DNA can help mend these patients' wounds and prevent further damage.

There are currently no approved treatments for those with butterfly disease, scientifically known as"epidermolysis bullosa" . Doctors, patients and their caregivers can only tend the blisters as they arise, trial leader Dr. M. Peter Marinkovich , director of the Blistering Disease Clinic at Stanford Health Care and an associate professor of dermatology at the Stanford University School of Medicine, told Live Science.

B-VEC is designed to treat a subtype of butterfly disease known as"dystrophic EB," caused by mutations in a gene called COL7A1. The gene normally codes for a type of collagen — specifically a rope-like protein that helps anchor the outermost layer of skin to the one beneath. People with dystrophic EB lack this stabilization, so their skin layers rub against each other and blister.

B-VEC works by delivering working copies of COL7A1 directly into patients' wounded skin. It contains a version of the cold sore virus, herpes simplex virus 1, that is modified so it can’t replicate in human cells and carries two copies of COL7A1.

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