Joint Transnational Call 2012 (JTC2012)


Usher syndrome (USH) is a rare genetic disease and the most common form of inherited deaf-blindness in man. USH is a clinically and genetically complex disorder, making diagnosis and treatment challenging. In the present “EUR-USH” network, young investigators with different backgrounds in medicine, genetics, cellular and molecular biology aim to synergize their expertise and bring new insights towards the understanding of USH. The combination of state-of–the-art clinical examinations and molecular analyses (e.g. NGS) will improve diagnosis. In addition, basic research (proteomics, imaging) will enlighten the mechanisms of the molecular pathogenesis. Moreover, gene-based therapies will be evaluated namely gene augmentation and translational read-through, to treat the progressive retinal degeneration with the ultimate goal to improve the life quality of USH patients.

  • Nagel-Wolfrum, Kerstin (Coordinator)
    Institute of Zoology, Celle and Matrix Biology Johannes Gutenberg University of Mainz, JGU Mainz [GERMANY]
  • Vaché, Christel
    Laboratoire Génétique Moléculaire CHU INSERM U827 [FRANCE]
  • José Gil Duarte Silva, Eduardo
    Center for Hereditary Diseases and Visual Neurosciences Laboratory IBLI Faculty of Medicine University of Coimbra [PORTUGAL]
  • Van Wijk, Erwin
    Radboud University Nijmegen Medicine Center [NETHERLANDS]
  • Sliesoraityte, Ieva
    Institut de la Vision Paris [FRANCE]
  • Leal, Sérgio
    AIBILI (Coordinating Center of the European Vision Institute Clinical Research Network) [PORTUGAL]