Epidermolysis Bullosa (EB)

Epidermolysis bullosa (EB) is a family of inherited disorders that cause painful blistering and skin fragility. There are several types of EB, ranging from mild to severe. Children with severe forms face life-threatening complications, including chronic wounds, heightened infection risk, and aggressive skin cancers. EB affects an estimated 500,000 people worldwide.

Understanding the Disease and Breakthrough Technologies

At the molecular level, EB results from mutations in genes encoding structural proteins. In dystrophic EB, the most common severe form, mutations occur in a gene that provides instructions for producing a collagen that acts as the essential anchor between the inner and outer layers of skin. Without this functional collagen, these layers separate with minimal force, causing the devastating blistering that characterizes the disease.

Imagine a World Where Diseases are Cured at the Genetic Level

At the Gates Institute at University of Colorado Anschutz, a team of dedicated researchers is rewriting the narrative of EB through its research using induced pluripotent stem cells (iPSCs). These are a type of stem cell generated from other adult cells. Like other stem cells, they have the ability to become another type of cell in the body. Patient iPSCs can be gene-corrected and then differentiated into a skin graft and returned to the patient to treat EB.

This research was spearheaded over a decade ago by Dennis Roop, PhD, associate director of Gates Institute, and has evolved into a comprehensive therapeutic development enterprise, and is now supported by Gates Institute Executive Director Terry Fry, MD, and Research Lead Mike Verneris, MD. Under the scientific leadership of Ganna Bilousova, PhD, and Igor Kogut, PhD, working in close collaboration with clinical partners Anna Bruckner, MD, and Emily Gorell, DO, the team is partnering with key partners, including the University of Colorado Boulder, Exthymic and Stanford University, to translate groundbreaking stem cell technologies into potentially curative treatments that could transform the lives of EB patients globally.