Joint Transnational Call 2018 (JTC2018)


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.

  • L. Michaud, Jacques (Coordinator)
    CHU Sainte-Justine Research Center [CANADA]
  • Krezel, Wojciech
    Centre Européen de Recherche en Biologie et en Médecine(CERBM), IGBMC [FRANCE]
  • VerdonTaylor
    University of Basel [SWITZERLAND]
  • Poch, Oliver
    Faculté de Médecine iCube, UMR 7357 [FRANCE]