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Father discovers cure for sons’ rare genetic disease

| | October 4, 2013

Nick Sireau’s sons Julien, 12, and Daniel, 10, suffer from alkaptonuria, a genetic disorder affecting just one in 500,000 people.

AKU is caused by a mutated gene passed on by both parents. Mr Sireau and his wife Sonya were both carriers of the abnormality despite not having the condition themselves, meaning their sons had a 25 per cent likelihood of developing the disorder.

Daniel was also diagnosed with AKU shortly after he was born, prompting Mr Sireau to quit his job as a charity boss three years ago and seek a cure with US and UK scientists, which he told The Mirror is a drug called nitisinone.

Read the full, original story here: Father discovers cure for sons’ rare genetic disease

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