Scientists hope relative can help explain Elephant Man

Scientists have traced one of the nearest living relatives of the "Elephant Man" in an attempt to try to solve the 112-year-old mystery of what caused his disfigurements. Despite retaining the skeleton of Joseph Merrick, whose deformed face led to him being exhibited as a Victorian circus freak, doctors have never been able to explain his symptoms.

Now researchers hope to find the answers after they tracked down Pat Selby, whose grandfather was Merrick's uncle and still lives in his home town of Leicester. Using the latest genetic techniques, experts are to study Mrs Selby's DNA to try to diagnose the condition which caused Merrick's skull to grow until its circumference was greater than his waist.

It has long been believed that the growth was caused by a rare disease, Proteus Syndrome, first diagnosed in 1979, which can cause gigantism, or disproportionate growth of bone and tissue.

Malcolm Hall, who is among the researchers from New Zealand making the study, said other diagnoses had been wrong. "When we think of him, we think of elephantitis, which is completely different. The name 'Elephant Man' was given to him by a showman in a freak show. He was probably the most deformed person in history."

Organisers of the project, which is to feature in a Discovery Channel documentary next year, made contact with Mrs Selby after it made an appeal in Leicester to find relatives of Merrick's mother. Researchers found Mrs Selby, who is in her seventies, was the granddaughter of George and Catherine Potterton. Mr Potterton, who lived on the edge of Leicester in 1901, was Merrick's uncle.

His great-niece, who heard about the request through her local history society, said she was unaware of her link with Merrick: "I'm quite interested in it now. I get from reading about him he was a very nice man."

Born in 1862, Merrick suffered a series of deformities during his childhood, including a swelling of the lips which created a 8cm "trunk". He was rescued from a travelling circus show by Sir Frederick Treves, a surgeon from the Royal London Hospital in the East End, where he lived until his death at the age of 28. Interest in his condition continued in medical circles and his body tissues and organs were dissected. The items, preserved in formaldehyde, were destroyed in the Blitz but the controversy over his remains also continues.

This year, some relations called for the return of his skeleton for burial from the Royal London Hospital and have refused to take part in the documentary.

Ray Merrick, whose great-grandfather was also an uncle of Joseph Merrick, said this month: "I am not interested in whether he had Proteus Syndrome or not. It is enough that he had to go through life like that. It must have been dreadful."