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.

Nosology and molecular diagnosis of the degenerative recessive ataxias

Project Coordinator

Department of Translational Medicine and Neurogenetics Institut de Genetique et de Biologie Moleculaire et Cellulaire


Franco Taroni Fondazione IRCCS Instituto Neurologico Carlo Besta Department of Research and Applied Technology Milano, Italy
Haluk Topaloglu Department of Pediatrics Hacettepe University CHildrens Hospital Ankara, Turkey
Ludger Schöls University of Tübingen Department of Neurology and Hertie-Institute for Clinical Brain Tübingen, Germany
Massimo Pandolfo Laboratoire de Neurologie Expérimentale-CP601 Université Libre de Bruxelles Brussels, Belgium
VardiellaJerusalem Meiner Department of Genetics and Metabolic Diseases Hadassah-Hebrew University Hospital Jerusalem, Israel

The present project will focus on the non-Friedreich’s ataxias, by designing an efficient screening methodology for degenerative recessive ataxias (DRA) using high-throughput sequencing of 30 DRA genes. Due to this broad approach, we will be able to gain knowledge about the frequency of all DRAs in different European populations as well as the phenotypic variability of single entities. To this end, patients will participate in neuroimaging studies using structural, functional and diffusion tensor imaging. Furthermore, this genetically well-defined cohort will provide an ideal basis in search for new autosomal recessive ataxia genes. Large families with ataxia corresponding to none of the known forms will be used to identify the corresponding molecular defects. Patients with novel recessive ataxia will participate in neuroimaging studies using structural, functional and diffusion tensor imaging. Once a new gene is identified, if it is evolutionarily conserved, validation of mutations will be carried out in yeast, Caenorhabditis elegans and/or zebrafish models. Induced pluripotent stem cells will be generated for these new forms of ataxia in order to test the molecular pathways involved in these diseases (oxidative stress, genotoxic stress, metabolic stress…). Additionally, this approach will promote interventional trials in ataxia subtypes where therapeutical strategies are already available by identifying respective families and gathering representative cohorts of these rare diseases. 

E-Rare 2012 - Created by Toussaint Biger