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Finding hope

University researcher Jakub Tolar, M.D., Ph.D., with Keric Boyd, who underwent an experimental bone marrow transplant to treat his EB. Now Keric can ride his bike -- something he was never allowed to do before. (Photo: Emily Jensen)

U researchers’ stem cell breakthrough treatment for a fatal skin disease began with philanthropy

For the first time ever, physician-scientists at the University of Minnesota have demonstrated that a lethal skin disease can be successfully treated with stem cell therapy.

Medical School researchers John E. Wagner, M.D., and Jakub Tolar, M.D., Ph.D. — in collaboration with researchers in Oregon, the United Kingdom, and Japan — used stem cells from bone marrow to repair the skin of patients with a fatal skin disease called recessive dystrophic epidermolysis bullosa (RDEB).

It’s the first time researchers have shown that bone marrow-derived stem cells can repair the skin and upper gastrointestinal tract and alter the natural course of the disease.

Until now, bone marrow has only been used to replace diseased or damaged marrow.

“To understand this achievement, you have to understand how horrible this disease actually is,” says Wagner. “From the moment of birth, these children develop blisters from the slightest trauma, which eventually scar. They live lives of chronic pain, preventing any chance for a normal life.”

That was reality for the Liao family of New Jersey. Theresa Liao tracked down Wagner at a medical conference in New York in 2004, literally thrust her then-2-year-old son, Jacob, at him, and begged him to save her child. It was a promise Theresa had made to her son at birth.

Research by Jakum Tolar, M.D., Ph.D., and John Wagner, M.D., moved quickly from mouse studies to showing success in paitents. (Photo: Emily Jensen)

“I used to hold him in my arms and cry,” she says. “I told him I was going to make a difference, and that we were going to fix it or make it better or at least go down swinging.”

The encounter launched Wagner’s work on the disease. The Liao family raised enough money for his team to start a laboratory study with mouse models of RDEB. In 2007 the team found that a rare subpopulation of marrow stem cells could repair the mice’s skin.

With additional philanthropic support, Wagner and Tolar launched a clinical trial to find out if the therapy also could work in humans.

Since that study began at the University in 2007, 10 children with the most aggressive forms of EB have received transplants at University of Minnesota Amplatz Children’s Hospital. Although all of those children have responded to the therapy, the magnitude of each response has varied.

“While the treatment offers a chance for a better life, it comes with significant risk,” Tolar says. “Two children have died from complications related to the treatment, so refinements are needed.”

Jake Liao was one of the two children who didn’t make it. His younger brother, Nate, who also was born with EB, however, has improved significantly since his transplant.

For Theresa Liao, the success is bittersweet.

“I miss my best friend,” she says of Jake, “but I wasn’t afraid, because one way or the other I knew what the outcome was going to be if we didn’t give him a chance.”

And that’s precisely what motivates both Wagner and Tolar to keep improving the therapy.

“My hope is to do something that might change the natural history of this disease and enhance the quality of life of these kids,” Wagner says.

By Nicole Endres

To support this research, contact Elizabeth Patty at 612-625-6136 or e.patty@mmf.umn.edu.

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