PRESS RELEASE
 
 
Fragile X Syndrome: A European partnership commits to finding new treatments


Mara Dierssen from the Centre for Genomic Regulation in Barcelona is coordinating a European project, Cure_FXS, which brings together five laboratories to explore new cures for people affected by Fragile X syndrome


The Cure_FXS project was launched in April. It was applauded by the ERANet Programme on rare diseases of the European Commission under the 7th Framework Programme and receives supports from funding agencies in five countries: Spain, France, Italy, Germany and the Netherlands
 
Fragile X syndrome (FXS) is a common inheritable cause of mental retardation that can be associated with forms of autism. FXS is more typical in males with approximately 1 in 4000 affected as opposed to 1 in 8000 females (European Journal of Human Genetics, 2008). FXS is a genetic disorder, caused in most cases by mutation in a single gene, the FMR1 gene, located on one of the sexual chromosomes, the X chromosome. A specific DNA segment within the FMR1 gene is normally repeated 5 to 40 times. In people affected by Fragile X syndrome this segment, known as triplet CGG, can be expanded up to 200 times or more, preventing the gene from producing the Fragile X mental retardation protein (FMRP). FMRP is a key regulatory protein in the brain and its absence causes the misregulation of other proteins leading to complex learning and behavioural problems.
 
The FMR1 gene was discovered twenty years ago; screening tests are available, but until now there has been no treatment available. The Cure_FXS project is determined to look for and test new drugs to cure people affected by FXS. For many years, Mara Dierssen, group leader at the CRG and coordinator of the FXS project, has focused her research on neurobiological disorders. “We will target a specific signalling pathway in the neurones which has the potential to slow down the dangerous effects of FMRP inactivation”, she explains. The five Cure_FXS partners will use a wide range of tools to examine the effects of the new drugs, from analysing the complex behaviour in mouse models to exploring the molecular mechanisms and morphology of neuronal cells.
The Cure_FXS project will run for three years with a budget of almost one million Euros. The Instituto de Salud Carlos III will support the part of the project run at the CRG. Mara Dierssen hopes that “team work and cooperation will deliver new treatments to Fragile X syndrome patients”.
 
Partners

• Mara Dierssen, Centre for Genomic Regulation, Barcelona, Spain
• Giovanni Diana & Carla Fiorentini, Instituto Superiori di Sanitá, Roma, Italy
• Gerard Ramakers, University of Amsterdam, Amsterdam, The Netherlands
• Oliver Stork, Institute of Biology, Magdeburg, Germany
• Barbara Bardoni, IPMC-CNRS, Valbonne, France

 
For further information: Laia Cendrós, Communication & PPRR Dept., Centre for Genomic Regulation (CRG), Dr. Aiguader, 88 – Edif. PRBB, 08003 Barcelona. Tel. +34 93 316 02 37.