Epidermolysis Bullosa (EB) Center

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'I Refuse EB' Fund for Epidermolysis Bullosa Research

The severe forms of epidermolysis bullosa (EB) are diseases like no other. Because of a genetic typo, patients with EB don't produce an important protein that holds the layers of the skin together. This results in a lifetime of blisters, long-lasting wounds, difficulty eating, and eventually loss of mobility and a shortened life. A request by the parent of a patient started us on the quest for the cure over ten years ago.

The University of Minnesota discovered in 2007 that using bone marrow transplant in mice could ease the devastation of the disorder. Beginning in 2008, patients began receiving this therapy, which is still the only whole-body treatment available. Our experiences with these patients and their families has led us join the worldwide efforts to find better treatments and hopefully a cure for EB. Over the past ten years, we have seen nearly 80 patients with this rare disorder. This gives us the opportunity to study the broad spectrum of how the disease behaves in different people.

Some of our research is looking for a cure by removing the genetic typo using a form of gene therapy. Other research focuses on quality of life issues, like the cause (and treatment) of the unbearable itching EB patients also suffer from. Currently, a significant part of our research aims to better understand the way the disease operates at the molecular and cellular level, to identify the parts of bone marrow transplant therapy the disease responds to, and to learn more about EB patients' susceptibility to squamous cell carcinoma.