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My brother was diagnosed with XP or xenoderma pigmentosum in 2022. He has had amazing support of this charity and they deserve the recognition. They have limited funding so I thought I would do my bit.
WHAT IS XP?
XP = xeroderma pigmentosum:
The Facts (as of 2022)
XP is an autosomal recessive genetic condition (this means it has no bearing on whether you have X or Y chromosomes)
Both parents need at least one copy of the affected (carrier) gene as per figure 1; resulting in a 25% chance of a child having the condition
There are 7 types (complementation groups) of XP; groups A-G plus a further XP-variant, XP-V
XP typically effects the skin, but certain patients also have problems with the central nervous system as well as the eyes and ears
People with XP are 10,000 times more susceptible to skin cancer than the general population
There are less than 200 people with XP in the UK and similarly low numbers all around the world