Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

The Netherlands
Experimental approaches towards therapeutic intervention for Fragile X-associated Tremor Ataxia Syndrome

Project Coordinator

Department of Clinical Genetics Erasmus Medical Center
The Netherlands


Monica Santos Depertment of Genetics & Molecular Neurobiology Institute of Biology Otto-von-Guericke University Magdeburg Magdeburg, Germany
Nicolas Charlet-Berguerand Department of Translational Medicine IGBMC Illkrich, France

Fragile X associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of the FMR1 premutation.  This premutation consists of an expansion of 55-200 CGGs, which results in elevated levels of FMR1 messenger RNA. The mRNA containing the repeat expansion is thought to be the cause of the disease. In this research project a mouse model for FXTAS will be applied to study the toxic effects of FMR1 mRNA. The results will advance our knowledge about the cellular and molecular mechanisms involved in FXTAS. In addition, the researchers will try to halt or reverse disease progression using drugs that target the elevated levels of FMR1 messenger RNA. The outcome will provide a framework for developing innovative interventions for FXTAS.

E-Rare 2012 - Created by Toussaint Biger