Action Medical Research

Rett Syndrome

Testing a gene therapy for Rett syndrome, a very serious autism-spectrum disorder.

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It ran from 12:00 AM, 1 September 2009 to 12:00 AM, 1 September 2012

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Registered Charity in England and Wales (208701)

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  • Health/WellbeingHealth/Wellbeing
  • Medical ResearchMedical Research

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Situation

Rett Syndrome is a very serious autism-spectrum disorder. Symptoms appear 6-18 months following birth when a child enters a "crisis" usually accompanied by a marked deceleration of head growth severe problems with language, movement and breathing and susceptibility to seizures and scoliosis of the spine. This condition is caused by a faulty gene and since the gene is on the X chromosome, the condition overwhelmingly affects girls. There are currently 2,400 patients with Rett syndrome in the UK.

Solution

Currently patient survival is dependent on intensive lifelong support. In this study, researchers will reactivate the gene in a mouse model of Rett syndrome. Initial laboratory work by this team suggests that many of the symptoms of the disease could be corrected by gene therapy. Further work is now needed to determine the best way of repairing or replacing the faulty gene. This research aims to demonstrate that Rett syndrome could be treatable using gene therapies in the future.