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Zuzia’s new skin: a pioneering treatment for EB

A young girl named Zuzia and her family traveled from Poland to University of Minnesota seeking treatment for a rare, incurable disease. Her outcome was life-changing. Jakub Tolar, M.D., director of the Stem Cell Institute and vice dean of the University of Minnesota Medical School, has pioneered a procedure to help patients overcome this debilitating genetic disorder. Health Talk is sharing this story in observance of Rare Disease Day 2017. It was written by Nicole Endres and first published in University of Minnesota Foundation’s Legacy magazine.

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in-the-news

In The News: Innovative U of M clinical trial offers hope for rare skin disease

Children with epidermolysis bullosa (EB) face large life challenges from the get-go. The genetic disorder leaves skin extremely fragile and with visible rashes and painful blisters. According to an NBC News report, approximately 25,000 to 50,000 Americans, mostly children, live with EB and people who don’t receive treatment often die by the age of 30.

But a clinical trial led by Jakub Tolar, M.D., Ph.D., professor and pediatric blood and marrow transplant physician at the University of Minnesota Medical School, may help improve the quality of life for those diagnosed with EB.

“This is one of the most difficult to treat disorders and a very painful disorder,” Tolar said in the NBC News report. “Before we started, there was absolutely nothing that would change the outcome of these children.”

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research-and-clinical-trials

U of M researchers find novel gene correction model for Epidermolysis Bullosa

A research team led by pediatric blood and marrow transplantation experts Mark Osborn, Ph.D. and Jakub Tolar, M.D., Ph.D. from the Masonic Cancer Center, University of Minnesota, have discovered a remarkable new way to repair genetic defects in the skin cells of patients with the skin disease epidermolysis bullosa.

The findings, published today in the journal Molecular Therapy and highlighted in the most recent issue of Nature, represent the first time researchers been able to correct a disease-causing gene in its natural location in the human genome using engineered transcription activator-like effector nucleases.

Epidermolysis bullosa (EB) is a skin disease caused by genetic mutations. Patients suffering from EB – primarily children – lack the proteins that hold the epidermis and dermis together, which leads to painful blistering and sores. The condition is often deadly. The University of Minnesota is an international leader in the treatment of EB and the research that has led to new treatment approaches.

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