Epidermolysis Bullosa Fact Sheet

CIRM funds many projects seeking to better understand epidermolysis bullosa and to translate those discoveries into new therapies.

Description

Epidermolysis bullosa is a devastating genetic skin disease in which the protein that normally anchors the skin to the underlying tissue is absent or doesn't function properly. Without that protein, the slightest friction can rub skin off leaving behind blisters and open sores.

Children with the most severe form of the disease develop disfiguring scar tissue and often die as young adults. The less severe form of the disease can result in blistering on the hands, feet, and places where clothes rub but the disease is rarely lethal.

The only treatment for EB is to carefully tend any wounds and bandage the limbs to prevent further injury. The disease is extremely painful and requires intensive care.

The goal of a stem cell therapy for EB is to replace the protein that is missing on the skin. Some groups outside California are testing whether a bone marrow transplant, which generates a new blood system, might treat the disease. The idea is that the new blood system would provide small amounts of the missing protein to the skin. Other groups are trying to genetically engineer a patient’s own skin cells to contain the protein.

Disease Team

Stanford University

A team led by Stanford University researchers intends to genetically engineer a patient’s cells to contain the protein missing in people with EB. They will first take a skin sample and then convert those cells into embryonic-like state (so-called iPS cells). These cells can become any cell type in the body and also can be grown in large numbers in the lab. They will then genetically engineer those cells to contain the missing protein, then coax the altered cells to form sheets of skin. The team then plans to transplant the sheets onto a patient’s skin in the hopes that the cells will form a new, healthy skin layer. The team has shown that this approach works in animals with the disease. They are now working toward making the approach safe to test in human clinical trials.

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