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.

Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment

Project Coordinator

CHU Sainte-Justine Research Center


Wojciech Krezel Centre Européen de Recherche en Biologie et en Médecine (CERBM) – IGBMC Illkirch, France
Verdon Taylor University of Basel Basel, Switzerland
Olivier Poch Faculté de Médecine, iCube, UMR 7357 Strasbourg, France


The main aim of this project is to gain a better understanding of the underlying mechanisms of rare progressive motor and cognitive impairments associated with mutations in retinoic acid receptor beta (RARb). We have already shown that such mutations lead to enhanced activity of RARb in response to retinoic acid, an active form of vitamin A. Using the new mouse model of this disease, and patient-derived material we will investigate molecular alterations resulting from the most common mutant forms of RARb and link such changes with pathophysiology of this disease, but also with therapeutic outcome of novel new therapeutic compounds which will be tested in this project. The integrated knowledge database, which will be generated, will be made accessible and maintained, to provide a comprehensive blueprint of the retinoic acid receptor network function and dysfunction. It  should be valuable for researchers and clinicians in the field as it will allow advanced datamining, test hypotheses or provide candidate genes involved in biological processes or mutated in RARopathies.


E-Rare 2012 - Created by Toussaint Biger