Project: Nosology and molecular diagnosis of the degenerative recessive ataxias

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. 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. 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

Acronym Euro-SCAR
Network E-Rare-2
Call 3rd Joint Call for Research Projects on Rare Diseases

Project partner

Number Name Role Country
1 Institut de Genetique et de Biologie Moleculaire et Cellulaire Coordinator France
2 University of Tübingen Partner Germany
3 Université Libre de Bruxelles Partner Belgium
4 Hacettepe University Children’s Hospital Partner Turkey
5 Hadassah-Hebrew University Hospital Partner Israel
6 Istituto Neurologico Carlo Besta Partner Italy