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.

The Netherlands
European young investigators network for Usher syndrome

Project Coordinator

Institute of Zoology, Cell and Matrix Biology Johannes Gutenberg University of Meinz, JGU


Christel Vaché Laboratoire de Génétique Moléculaire CHU (University Hospital) INSERM U827 Montpellier Montpellier, France
Eduardo José Gil Duarte Silva Center for Hereditary Diseases and Visual Neurosciences Laboratory IBLI- Faculty of Medicine University of Coimbra Coimbra Coimbra, Portugal
Erwin van Wijk Radboud University Nijmegen Medicine Center Nijmegen Nijmegen, The Netherlands
Ieva Sliesoraityte Institut de la Vision Paris Paris, France
Sérgio Leal AIBILI (Coordinating Centre of the European Vision Institute Clinical Research Network) Coimbra Coimbra, Portugal

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.

E-Rare 2012 - Created by Toussaint Biger