Helping children with epidermolysis bullosa

Cure Kids funding enables Dr Sheppard and her team to investigate the use of genome editing technology to target defective genes and repair them. These engineered genome-corrected cells can then be grown into skin sheets in the lab to treat kids with epidermolysis bullosa.

Dr Hilary Sheppard

University of Auckland

The skin condition epidermolysis bullosa (EB) is painful and seriously reduces quality of life for those affected. When children have this condition, their skin becomes extremely sensitive to trauma and friction, resulting in recurrent blistering, painful sores and debilitating scarring. Secondary effects for some forms of the condition include a high risk of early skin cancer.

The condition is hereditary, meaning that the malfunction starts in DNA – specifically the genes responsible for creating the glue that holds skin cells together.

Engineering a solution

Once corrected, the cells are grown into skin with the aim of grafting it back on to the child with minimal risk of rejection.

Dr Hilary Sheppard from the University of Auckland is investigating the use of genome engineering technology, known as CRISPR, to repair the genes in affected cells. Once corrected, the cells are grown into skin that can be grafted back on to the child with minimal risk of rejection. Dr Sheppard and her team are world leaders in growing skin outside of the body.

CRISPR harnesses the power of the bacterial immune system, which has evolved to fight off viruses over millions of years. CRISPR technology acts as a pair of molecular scissors to snip and replace defective DNA with a functioning replacement.