Joseph Merrick, the Elephant Man, was the most shockingly disfigured person in medical history. His massive, bulbous head was so heavy that he had to sleep sitting up. Some parts of his body were grossly enlarged, while others were weak and under-developed. Huge folds of warty skin dangled from his chest and back, and growths inside his mouth made speech an ordeal.

In an English pub, two families meet for the first time in over 100 years. They are descendants of Joseph Merrick’s closest relatives, and they have come together to help solve the mystery of his illness.

Lurking in their genes could be some remnant of whatever disease cursed Joseph, or perhaps Joseph’s genes could explain one relative’s bony lump, or why almost every member of another branch of the family has died of cancer.

Joseph himself believed his horrific deformities were caused when an elephant frightened his mother while she was pregnant with him. His doctors’ explanations were little better, and it wasn’t until several years after his death that doctors first suggested the diagnosis of neurofibromatosis.

The Curse of the Elephant Man meets Richard, a man living with eurofibromatosis today. It is a painful, crippling disease that has destroyed his life, but there has never been a case as severe as Joseph’s. Could there be more to Joseph’s story than just neurofibromatosis?

More recently, doctors have suggested that he had another, much rarer condition called proteus syndrome. The Curse of the Elephant Man also meets Noah Southall, a sufferer of Proteus Syndrome, and witnesses first hand the impact this terrible disease has on him and his family. Could proteus syndrome be the missing link in determining the cause of the Elephant Man’s disfigurements?

It’s only now, as we push the boundaries of science using the latest tools, that we can begin to lay the mystery of the Elephant Man to rest. In this programme world-leading scientists from three continents come together to perform pioneering tests on Joseph’s ancient remains.

For the first time ever, the scientists extract samples of bone from Joseph’s skeleton and carefully remove hairs embedded in his death mask, in an effort to unravel Merrick’s genetic code.

And by analysing DNA samples taken from living descendants from both sides of his family, they search molecule by molecule for a subtle remnant of whatever disease afflicted Joseph.

Then, using the latest computer modelling technology, laser scans and CT scans of his skeleton, we reveal for the first time in more than a century what the Elephant Man really looked like. And through the wonders of image manipulation we see those deformities melt away to reveal the normal human being trapped beneath them. For the first time we see the true face of the Elephant Man.