New research could bring gene therapy a step closer for Rett syndrome, an incurable genetic disorder | Action Medical Research

New research could bring gene therapy a step closer for Rett syndrome, an incurable genetic disorder

3 March 2011

NB: To view the DVD click here or contact us for a copy. Groundbreaking research being funded by West Sussex-based children’s charity, Action Medical Research has started at the University of Edinburgh. They are investigating the possibility of treating symptoms of the genetic disorder, Rett syndrome, with gene therapy.  

Approximately one in every 10,000 to 15,000 baby girls develops Rett syndrome – a very serious developmental disorder, which devastates not only the child’s life, but those of family and carers too.   
The Watson family, from Epsom, Surrey, are supporting Action Medical Research to raise awareness of this rare and devastating disorder and have taken part in a DVD with the charity talking about their experiences, which has been launched on the Charity’s web site today. 
Grace had often been the first baby from her mum’s antenatal class to reach those all-important early milestones, but between nine and 12 months things began to change. Other babies started crawling, walking or talking but Grace didn’t. Although nobody knew it at the time, she was showing the signs of Rett syndrome.
Just before her daughter’s second birthday, Gwenda was told that Grace had a chromosome defect and she was referred to Great Ormond Street Hospital, where experts concluded she had Rett syndrome – a condition usually caused by mutations, or faults, in a gene called MeCP2 on the X chromosome. 
Little girls with Rett syndrome have profound and multiple physical and learning disabilities, and are totally dependent on others for their care. They struggle with communication and mobility, while other serious problems can include seizures, chronic spinal curvature and breathing and feeding difficulties.
For Gwenda the diagnosis was a huge shock. “All the information I was given was so dire. I had thought that one day she would speak and walk on her own and suddenly I was told it was very unlikely she’d ever speak or walk unaided,” she said 
Babies with Rett syndrome initially seem to develop normally – they may even learn to walk or say their first words – until there is period of slowing down in development between six and 18 months. A devastating regression follows and the child begins to lose previously learned skills and control of movement, especially purposeful use of their hands. 
Now ten, Grace cannot speak and communicates by eye-pointing, touch or crying. She has very rigid, awkward posture and curvature of the spine, but has learned to walk on her own, taking her first solo steps aged seven. 
“While I have come to terms with Grace's diagnosis, there are still times that I grieve for the child I thought I had. I had looked forward to my little girl doing ballet, cooking with me and lots of other things,” says Gwenda.
In 2007, researchers discovered that it was possible to reverse the symptoms of Rett syndrome in a laboratory model of the disorder, using a form of genetic manipulation.  In this new project researchers aim to build on previous research bycorrecting faults in the MeCP2 gene in particular areas of the brain of a laboratory model and monitoring how this affects individual symptoms.
”We are really excited about this project as we believe that one day it could lead to us being able to reverse some of the debilitating symptoms of Rett syndrome,” says Professor Adrian Bird from the Wellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh.
In this project, researchers are hoping to map out which parts of the brain are linked to each individual symptom of Rett syndrome. They hope to help bridge the gap between the laboratory model and the patient and provide additional proof of principle that gene therapy has the potential to improve the lives of girls with Rett syndrome.
Dr Alexandra Dedman, Senior Research Evaluation Manager at Action Medical Research explains why the charity is committed to funding this type of research.  “The possibility of using genetic manipulation to reduce or even reverse the symptoms of a condition that is considered incurable is cutting edge research and we look forward to the results of this project, which could bring hope to the families of children with Rett syndrome.”  
For more information contact on:
Claudine Powell, Communications Manager, Action Medical Research
T: 01403 327478, E: W:
A DVD of Grace and her family talking abou the condition is now available from Action Medical Research and can be viewed on our web site – – please contact Claudine Powell if you require a copy of the DVD, or if you require any further information about the family. 
Action Medical Research is the leading UK-wide medical research charity dedicated to helping babies and children. We know that medical research can save and change children’s lives. For nearly 60 years we have been instrumental in significant medical breakthroughs, including the development of the UK polio vaccine and ultrasound scanning in pregnancy. Today, we continue to find and fund the very best medical research to help stop the suffering of babies and children caused by disease and disability. We want to make a difference in:
tackling premature birth and treating sick and vulnerable babies 
helping children affected by disability, disabling conditions and infections 
targeting rare diseases that together severely affect many forgotten children. 

[1]National Institute of Neurological Disorders and Stroke (NINDS), Rett Syndrome Fact Sheet, National Institutes of Health (NIH) Publication No 04-4863, June 6, 2008.

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