© Pint of Science, 2025. All rights reserved.
What happens when the body's outer layer of defence becomes its greatest challenge?
These talks explore two rare genetic conditions, Harlequin ichthyosis and junctional epidermolysis bullosa, where skin becomes either armour-like or impossibly fragile.
Through the lens of rare skin disorders, discover how researcher examine the complexity of the human body, and the innovative science required to overcome these profound challenges.
These talks explore two rare genetic conditions, Harlequin ichthyosis and junctional epidermolysis bullosa, where skin becomes either armour-like or impossibly fragile.
Through the lens of rare skin disorders, discover how researcher examine the complexity of the human body, and the innovative science required to overcome these profound challenges.
Fixing Rare Skin Disorders from the Inside Out
Dr Tom Kirk
(Post Doctoral Researcher)
Our skin is the largest organ in our bodies, protecting us from the outside world. But what happens when this protective barrier fails? Junctional epidermolysis bullosa is a rare genetic skin disorder also known as 'Butterfly Skin'. Patients with Butterfly skin have a rare gene mutation that makes their skin extremely fragile and prone to blistering; skin becomes as delicate as the wings of a butterfly. Join us to see how advances in genetics and gene editing can give new hope to people with this currently incurable condition!

Harlequin Ichthyosis: Unravelling a Rare Genetic Skin Disorder
Dr Elena Giusto
(Post Doctoral Researcher)
Harlequin ichthyosis is a rare and severe genetic skin disorder that causes babies to be born with skin which is thick and hard like armour. The skin cracks and forms large scales that can cover much of the body - infants with this disease need intensive care and support for their whole lives. In this talk, Dr Elena Giusto will show us how researchers model this rare disease in the lab so that we can uncover exactly how gene mutations lead to patient symptoms in super-rare disorders, and how we can search for treatments for the future.

Map data © OpenStreetMap contributors.
Other London Hospital Tavern events
2025-05-21
DNA Detectives! Uncovering the Links from Genes to Disease...
London Hospital Tavern
176 Whitechapel Rd, London, E1 1BJ, United Kingdom
2025-05-20
Food for Thought: The Truth About Doggie Dining
London Hospital Tavern
176 Whitechapel Rd, London, E1 1BJ, United Kingdom