‘Elephant Man’ disorder breakthrough
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July 28, 2011 |
‘The Elephant Man’ is an amazing cry-fest of a film and one of my favourites.
Using a new DNA sequencing technique, scientists have now discovered that the disease the ‘Elephant Man’ may have had – Proteus syndrome – is caused by a mutation in a single gene. Proteus syndrome is a rare disease where skin and tissues grow into huge, painful tumours.
The same mutation is also a known cause of some cancers. So further research to help those with Proteus syndrome could also have wider benefits.
This news story is supported by the Wellcome Trust, GlaxoSmithKline and Life Technologies Foundation as part of the Who am I? project.
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The skeleton of the real Elephant Man, Joseph Merrick, is preserved at the Royal London Hospital.
Image: Royal London Hospital Archives
Suzy
I’m really interested in this mutation – why does it cause Proteus syndrome in some people and cancers in others?
Hazel
If this mutation causes cancer in some but proteus syndrome in others, what is the difference that causes the separate diseases?
Is it different genes of people or a similar to being immune to a disease?