Reference:
SP4443, GN1755
Abstract:
For many years, Rett syndrome was widely regarded as an incurable disorder, as it was generally thought to cause irreversible changes in the brain. Then, in 2007, came the astonishing discovery that it was possible to reverse the symptoms of Rett syndrome in a laboratory model of the disorder, using a form of genetic manipulation. Rett syndrome is caused almost exclusively by mutations ﾖ or faults ﾖ in a gene called MeCP2 (pronounced mec pea two). Researchers envisage a future therapy for Rett syndrome could work by repairing or replacing this faulty gene. In this project, researchers are investigating the potential of such genetic manipulation in a laboratory model. They are correcting faults in the MeCP2 gene in particular areas of the brain and monitoring how such targeted intervention affects individual symptoms. They hope to find out, for example, whether targeting the brainstem cures breathing disturbances, and whether targeting the cerebellum corrects abnormal movements. The researchers are also hoping to map out which parts of the brain are linked to each individual symptom of Rett syndrome.
PROJECT DETAILS
beginning: 2009.
end: 2012.
Country of research: United Kingdom
Counry of funding source: United Kingdom
Funding organization: Action Medical Research
Financing: PRIVATE FUNDERS – 226 344 €