Michael Dickman, pictured with his fiancee Kerry Bright, suffers from the rare medical condition bladder exstrophy. Picture: Chris Scott Source: Sunday Herald Sun

VICTORIAN researchers have made a world-first medical discovery that could help people with a rare, but incredibly severe medical condition.

The research team, led by Monash University and Southern Health Professor of paediatric surgery Wei Cheng, found a mutation in the P63 gene, which increases the risk of bladder exstrophy.

Babies born with the condition have a split in their abdomen and pubic bone, which exposes their bladder, putting them at risk of infection, renal failure and bladder cancer.

Prof Cheng said babies undergo surgery to repair the bladder, close the hole and reattach the pelvic bones, but often suffer lifelong complications.

The research was sparked by the chance discovery of a deformed mouse, which had a strange bubble in the bladder area.

Prof Cheng proved it was bladder exstrophy and started exploring a genetic link.

Prof Cheng and Monash Institute of Medical Research's Dr Simon Wilkins and Dr Susan Zhang co-ordinated a worldwide DNA collection over six years, asking surgeons from Canada, Malaysia, USA, Australia, Spain, India, Bangladesh and China, to collect DNA from patients.

Examination of the DNA led to the discovery of the genetic link.

They found 11 mutations in total; three were associated with an increased risk of BE.

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Gene hope for rare condition

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