Patient Support

In 1994, I discovered the genes that cause an ultra-rare hereditary skin condition known as Pachonychia Congenita (PC).

This is caused by mutations in any one of five keratin genes.

In 2024, I was appointed as the first Schwartz Professor of Genetic Medicine, as resident scientist working voluntarily (and remotely) for the pachyonychia congenita patient advocacy organisation PC Project, to spearhead new drug discovery programmes for this and related skin disorders that are presently incurable.

Anyone seeking help, advice or diagnosis should follow this link:

PC Project Website

Below is an appearance I made as a consultant on Channel 4’s “Embarrassing Bodies”, where we diagnosed a typical case of PC.