New research funding puts Rett Syndrome cure on the horizon
London: Researchers from Scotland and the US are taking a step towards reversing the effects of Rett Syndrome, a debilitating genetic disease affecting very young children in large numbers worldwide.
Scientists from the University of Glasgow have been awarded USD 1.6 million to work together with three research institutes in the US to develop treatments for Rett Syndrome, a profoundly disabling condition that has commonalities with autism spectrum disorders.
The grant, from the Rett Syndrome Research Trust (RSRT), will build an international consortium of researchers who will expand the breadth and depth of high-impact gene therapy research into the disease.
This is the first research group in the world specialising in gene therapy to combat the disease. This consortium will build on recent research breakthroughs that have successfully used gene therapy to reverse the progress of the disease in mice.
Future research will concentrate on developing similar treatments for clinical trials in humans.
Rett Syndrome is caused by a mutation in the MECP2 gene that leads to numerous devastating symptoms, some of which worsen over time.
It predominantly affects girls and causes severe regression in early childhood robbing children of the ability to speak, move normally and use their hands.
The disease also causes disordered breathing, tremors, severe anxiety and emotional disturbances, seizures, and digestive, circulatory and orthopaedic problems.
Although most children survive to adulthood they require total round-the-clock care for the duration of their lives. Researchers will target the underlying cause of the illness using gene therapy.
They eventually hope to develop treatments capable of reversing or preventing the symptoms of the disease meaning that sufferers will be able to lead relatively normal lives.
Dr Stuart Cobb, a neuroscientist from the University of Glasgow's Institute of Neuroscience and Psychology is leading the Glasgow team, alongside Dr Mark Bailey, a geneticist from the School of Life Sciences, also at the same university.
Dr Cobb said, "This funding comes at a very exciting time in the study of Rett Syndrome. Researchers have already proven that it is theoretically possible to beat the disease, but now we need to look at effective ways of delivering new treatments."
"Gene therapy now gives us an arsenal of new weapons to combat this disease and it is conceivable that one day we will be able to correct the cause of Rett at its very source and thus provide a profound recovery of function," he said.
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