University of Minnesota Medical School Researchers Continue to Search for Answers Surrounding Rare Condition
You may not know anyone with Epidermolysis bullosa, or EB, or, may not have ever even heard of it. But if you meet a child or adult with the condition, it is obvious to see the enormous impact it can have on the individual and the whole family.
EB is a rare genetic disorder that causes severe skin blistering, bleeding and sores. It’s caused by a mutation in a person’s genetic code. For a child with EB, even minor friction, contact, or trauma can cause the skin’s layers to separate and blister, and eventually scar over.
EB can be a difficult diagnosis for families, but there is hope. Some of the most exciting research in EB in happening at the at the University of Minnesota Medical School, such as the application of the latest techniques in gene therapy.
“My laboratory focuses on precision gene modification in order to correct the damaged DNA that causes EB. This is analogous to molecular surgery and results in permanent gene correction,” said Mark Osborn, Assistant Professor in the Department of Pediatrics, University of Minnesota Medical School. “We are also working on engineering cells to serve as a renewable depot of collagen production to enhance distribution and deposition of the protein at disease sites.”
The University of Minnesota is one of only a few centers in the world with multidisciplinary expertise in EB care. It is a recognized leader because a comprehensive approach that includes basic, translational, and clinical research.
Christen Ebens, MD, Assistant Professor in the Department of Pediatrics, University of Minnesota Medical School works directly with patients and families affected by EB. As a pediatric blood and marrow transplant physician, she helps determine which patients with EB might benefit from hematopoietic cell transplantation (or bone marrow transplant) and sees them through the treatment course.
“Over the past couple years, my team has investigated the use of other donor tissues aside from bone marrow, including mesenchymal stromal cells and skin grafts, to help EB patients with wound healing,” said Ebens. “We hope to share the remarkable results of this research in medical literature soon.”
Just recently, the Medical School and University of Minnesota Health received a new piece of technology programmed to maintain cells, transfer and store them, and analyze their biological properties 24 hours a day, 365 days a year. It allows researchers to do their work better and faster to advance the cell therapies of the future into the hands of patients.
Mid-October the EB Research Partnership visited the University to dedicate the machine as “Gabe’s Robot” in honor of Gabe Valentine, a young man who was described, in a word, as super: he was a super football fan, a super brother, and a super super-hero fan. This donation was possible thanks to support from a fundraiser last year called ACTion for Jackson.
“At the dedication of Gabe's robot, Gabe's father made an eloquent statement about the research we do at the University of Minnesota being therapeutic simply by providing hope to patients and families. Hope is life-sustaining when you're facing such a difficult disease,” Ebens shared.
Gabe's robot provides automation in a closed system to streamline many of the basic tasks lab members do every day while working on gene therapy. It can run 24-7 doing precision cell culture work on many samples at once, examining cells to know when to change the fluid they grow in, and provide the right temperature and motion. This allows skilled researchers to take a step away from simple, time-consuming tasks, and allows them to focus their expertise and intelligence on solving difficult problems and making scientific advancements.
The University is known in the EB community for hematopoietic cell transplantation as well as for the care provided to patients outside of transplant. There are collaborating EB experts in the fields of dermatology, gastroenterology, nutrition, pain and complex care, cardiology, surgery, anesthesia, infectious diseases, and genetic counseling. Thanks to the work done by researchers and physicians at the University of Minnesota, the Twin Cities is now home to a close-knit community of families affected by EB and a rich resource for practical daily care and support.
“We are extremely grateful for the work the patients and families do in every facet of the care process,” said Osborn. “They are crucial for success and their dedication, compassion, and work is game changing and is tremendously appreciated.”