Saturday, December 29, 2007

Rett reversal recognized in Wired Magazine


On December 27th WIRED released their Top 10 Scientific Breakthroughs of 2007 and honored the work of Adrian Bird, Ph.D. with their selection as the 5th most important scientific breakthrough of the year. Bird's landmark study which documented the reversal of Rett symptoms in genetically altered laboratory mice was announced this past February and was funded by the Rett Syndrome Research Foundation (now the International Rett Syndrome Foundation) the Wellcome Trust and the Rett Syndrome U.K./Jeans for Genes.

Caused by mutations in the gene MECP2, Rett syndrome (RTT) affects primarily girls, striking at random in early childhood and destroying speech, normal movement and functional hand use. Many children become wheelchair bound; those who walk display an abnormal, stiff-legged gait. Disordered breathing patterns and Parkinson-like tremors are common.

Restoration of fully functional MECP2 over a four week period eradicated tremors and normalized breathing, mobility and gait in mice that had previously been fully symptomatic and, in some cases, only days away from death.

"Like many other people, we expected that giving MECP2 to mice that were already sick would not work," said Bird. "The idea that you could put back an essential component after the damage to the brain is done and recover an apparently normal mouse seemed farfetched, as nerve cells that developed in the absence of a key component were assumed to be irrevocably damaged. The results are gratifyingly clear, though, and must give hope to those who are affected by this distressing disorder."

Bird is Buchanan Professor of Genetics at University of Edinburgh and Director of the Wellcome Trust Centre for Cell Biology.

The Top 10 List can be found here.

Video of this breakthrough study can be found here.

Our congratulations to Adrian Bird and his staff for this recognition and honor!


Anonymous said...

Wow what great information and hope. Always hold onto hope that they will find a cure for Rett Syndrome. Janet

erin oppy said...

This is such great news! My friend (Erin Keith - maiden name Golden) works in the recruitment office of the Chemistry Department at the University of Edinburgh - what a small world!