Skin Deep: Rare Conditions, Real Lives

Our skin is our first line of defence—a resilient barrier against the outside world. But what happens when that barrier is paper-thin? Junctional epidermolysis bullosa, often called Butterfly Skin, is a rare genetic disorder caused by mutations that make the skin incredibly fragile—so delicate it blisters at the slightest touch, like the wings of a butterfly. In this talk, we’ll explore how cutting-edge advances in genetics and gene editing are bringing new hope to patients living with this devastating, currently incurable condition.

Harlequin ichthyosis is one of the rarest and most severe genetic skin disorders. Babies born with this condition have skin that is thick, cracked, and armour-like—forming large, plate-like scales that can cover their entire bodies. From birth, they require intensive medical care and lifelong support. In this talk, Dr Elena Giusto takes us into the lab to explore how scientists are recreating this devastating disease in miniature models. By mimicking Harlequin ichthyosis in the lab, researchers are beginning to unravel how tiny genetic mutations can lead to such dramatic symptoms—and how this knowledge could open the door to future treatments for ultra-rare disorders.