NONSENSE MUTATION RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA (RDEB) and JUNCTIONAL EPIDERMOLYSIS BULLOSA (JEB)

Epidermolysis bullosa (EB) is a group of rare inherited skin disorders that cause the skin to become very fragile. Any trauma or friction to the skin can cause painful blisters.¹

RDEB and JEB are the two main types of EB.

• RDEB is caused by mutations in the COL7A1 gene that codes for COL7A1 protein. The COL7A1 gene is involved in coding for the collagen that helps attach the epidermis to underlying layers of skin. We are targeting nonsense mutations in COL7A1. These represent approximately 30-40% of all mutations in COL7A1.
• JEB is most commonly caused by mutations in the LAMA3, LAMB3 and LAMC2 genes. The LAMA3, LAMB3, and LAMC2 genes are involved in coding for a protein that plays an important role in strengthening and stabilizing the skin. We are targeting nonsense mutations in LAMB3 genes that represent approximately 70% of all mutations.