Project: Splicing Therapies for Dystrophic Epidermolysis Bullosa

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	SpliceEB
Duration	01/01/2013 - 31/12/2015
Project Topic	4th JOINT CALL FOR EUROPEAN RESEARCH PROJECTS ON RARE DISEASES (JTC 2012) (Driven by young investigators)
Network	E-Rare-2
Call	4th Joint Call for European Research Projects on Rare Diseases driven by Young Investigators

Project partner

Number	Name	Role	Country
1	University of Groningen, University Medical Center Groningen, Groningen, the Netherlands	Coordinator	Netherlands
2	University Medical Center Freiburg	Partner	Germany
3	Paracelsus Medical University Salzburg	Partner	Austria
4	Leiden University Medical Center	Partner	Netherlands