University research hailed as one of the breakthroughs of the year
Research carried out at the University of Glasgow has been named as one of the scientific breakthroughs of 2007.
Respected science and technology magazine Wired featured Dr Stuart Cobb’s work in their list of the 10 most important scientific discoveries of last year.
He was part of a team which reversed the effects of the severe autism spectrum disorder, Rett Syndrome.
The condition affects at least 10,000 children in the UK and is classified as an untreatable neurological disorder, leaving victims profoundly disable. There is no known cure.
However, after targeting a specific gene in mice, a research team from the universities of Glasgow and Edinburgh succeeded in reversing the symptoms.
Dr Cobb, a neuroscientist from the University's Faculty of Biomedical and Life Sciences, said "It is an honour that the team's work has been recognised in this way. The research was an important breakthrough, but for others to acknowledge that is very welcome.
"This breakthrough provides a small piece of hope for sufferers.
"The symptom reversal began after we targeted the MECP2 gene which causes Rett Syndrome. After the gene was switched on, symptoms such as motor control problems and breathing difficulties began to improve. Within a few weeks the affected mice were often indistinguishable from their healthy counterparts.
"It had been thought the disorder was caused by abnormal development but activating the MECP2 gene, even in adulthood, proved to be effective in reversing neurological symptoms.
"Analysing the communication between nerves in the brain, we discovered that abnormal signalling is also rectified when MECP2 gene is switched back on.
"The results really were quite astonishing and completely unexpected.
"Having demonstrated the concept of reversibility, it is hoped that the current breakthrough will encourage further research to discover a treatment."
Professor William Martin, head of Neuroscience and Biomedical Systems, said: "Stuart’s work is world-class and this research was truly exceptional. We all congratulate him on this recognition.
"This is an outstanding vote of confidence in the quality of the research conducted in the Faculty of Biomedical and Life Sciences and in the University."
The research, which was a collaboration with Professor Adrian Bird from the University of Edinburgh, was published online by the journal Science in February 2007.
Dr Cobb and Professor Bird have recently secured a studentship through the Scottish Life Sciences Alliance initiative to further the research.
Rett Syndrome is diagnosed almost exclusively in girls. They develop normally until 6 to 18 months, when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems.
First published: 8 January 2008