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Treating Joubert syndrome – paving the way for a personalised approach

Research has uncovered a gene that directly changes the severity of Joubert syndrome – a rare condition affecting the brain and often the kidney. It explains why disease progresses differently in different people with Joubert syndrome.

This discovery will mean that doctors could personalise a patient’s treatment based on their genetic makeup to prevent future children going through the pain of dialysis and a transplant.

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