After a competitive scientific evaluation by peers, the E-Rare funding bodies recommended for funding 11 excellent scientific projects, based on the ranking list established by the Scientific Evaluation Committee and the budget available. The European young investigators network for Usher syndrome is one of them.
Usher syndrome (USH) is a rare genetic disease and the most common form of combined 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 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.
|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|
Kerstin Nagel-Wolfrum studied biology with a focus on Developmental Biology at the University of Karlsruhe (TH). She got her PhD at the University of Frankfurt with a thesis in cancer research at the Georg Speyer Haus where she already developed a strong interest in translational medicine.
As a postdoc at Johannes Gutenberg University of Mainz she got interested in research on the human Usher syndrome (combined deaf-blindness) and related retinal ciliopathies with emphases in cell biology. As a visiting scientist at the Powell Gene Therapy Center, University of Florida, Gainesville (Prof. Hauswirth) she was trained in the design and generation of adeno-associated virus (AAV) and their subretinal application in mice.
At the JGU Mainz she established a research team which evaluates on the basis of functional analyses gene based therapeutic strategies for the cure of retinal ciliopathies, namely i) gene addition by AAV, ii) gene targeting by homologous recombination using endonucleases (TAL effector nucleases, zinc finger nucleases) and iii) read-through of nonsense mutations with small molecules, e.g. designer aminoglycosides and PTC124, respectively. Her research is embedded in international collaborations and networks.