USC dermatologist lauds U.S. Senate focus on rare and deadly skin disease

Calling attention to a rare genetic disease that blisters the skin and often kills its sufferers by young adulthood, the United States Senate recently declared the last week in October as “National Epidermolysis Bullosa Awareness Week.”

David T. Woodley, chair of the Department of Dermatology at the Keck School of Medicine, hailed the Senate’s unanimous Sept. 21 resolution as an important effort to increase public knowledge of, and support for, epidermolysis bullosa (EB) research.

In 1992, in collaboration with dermatologist Jouni Uitto of Thomas Jefferson Medical College, Woodley cloned the human gene that underlies EB. His laboratory’s current research into the disease is adding to fundamental knowledge about how wounds heal.

Often called the “blistering disease,” EB is caused by a genetic defect in the protein that codes for type VII collagen cells. These cells create a network of anchoring fibrils between the outer layer of the skin and the inner connective tissue layer, like threads sewing the layers together.

Without type VII collagen, wounds cannot close properly, and EB patients suffer from blisters and open wounds from the moment of birth, said Woodley. By the time they are teenagers, they may be restricted to a liquid diet due to blistering in the esophagus.

Worse still, he said, “After suffering all that, they generally die in their twenties as a result of squamous cell carcinoma caused by chronic cellular regeneration.”

In collaboration with professors of dermatology Mei Chen and Wei Li, Woodley, is now researching a lentaviral vector to get cells to express type VII collagen. In essence, the virus would act as a syringe. It contains the missing genetic material, and penetrates the cell membrane to deliver it inside the cell.

The method has already worked in animal models.

They are also performing experiments to demonstrate that type VII collagen is useful in most wound healing.

Woodley said that in the 20 years since President Ronald Reagan first proclaimed an EB awareness week, “Great progress has been made in understanding the disease.”

Even so, research funding for EB has lagged because it is such a rare illness. According to the National Epidermolysis Bullosa Registry, 20 infants out of every million live births are born with EB.

Woodley said “It is short-sighted to think that research on EB will only help a handful of people. Cures based on EB research will translate to help millions of burn and wound victims,” because the potential healing mechanisms are likely to be similar in both conditions.