Based on a ranking list that was established by the EU Scientific Evaluation Committee, the E-Rare funding bodies recommended the European young investigators network for Usher syndrome (EUR-USH) coordinated by Dr. Kerstin Nagel-Wolfrum from Johannes Gutenberg University Mainz for funding.
Fluorescence microscope image of cells with a nonsense mutation in the Usher syndrome 1C gene (USH1C/harmonin). In the presence of NB54, there is read-through of the USH1C mutation. The treated cells produce the healthy harmonin protein (green). (photo/©: Kerstin Nagel-Wolfrum)
Out of 82 submitted projects, EUR-USH was among the 11 excellent scientific projects that were chosen after a competitive two-step scientific evaluation by peers. In October 2013, researchers held their kick-off meeting in Nijmegen, the Netherlands.
In addition to Johannes Gutenberg Mainz University, Germany, five other research institutions, namely AIBILI and IBILI in Coimbra, Portugal, INSERM institutes in Paris and Montpellier, France, and the Radboud UMC in Nijmegen, the Netherlands, will participate in the EUR-USH collaborative project.
Financial support for the project will be provided by the national funding agencies, the German Federal Ministry of Education and Research (BMBF), the Portuguese Foundation for Science and Technology (FCT), the French National Research Agency (ANR), and the Netherlands Organisation for Health Research and Development (ZonMW).
In the EUR-USH network, young investigators with different backgrounds in science, clinical medicine, and genetic diagnostics synergize their expertise to shed more light upon the rare genetic disease Usher syndrome (USH). USH is the most common form of hereditary combined deaf-blindness in man. Since USH is genetically and clinically heterogeneous, diagnosing this disease is very challenging. So far the pathomechanisms resulting in the blindness of Usher patients are not fully understood. While the loss of hearing can currently be compensated by the use of cochlear implants, there is still no treatment for the associated blindness.
The EUR-USH project is divided into three components. The first component involves two Portuguese and two French work groups. Among their tasks are the improvement of Usher clinical diagnosis and the elaboration of significant markers for Usher disease progression. Results of the study will be uploaded into the newly established EUR-USH database. In the second segment, work groups in the Netherlands and Germany will concentrate on identifying the molecular pathogenesis of Usher syndrome.
By applying proteomic and imaging approaches they aim to identify novel members of the USH interactome to unravel common cellular pathways in which USH proteins are involved and provide candidates or modifier genes for USH and related retinal degenerations. In the third segment, groups will be developing treatment methods for the ophthalmologic component of the disease. They will evaluate two different approaches, gene augmentation and translational read-though, to treat the progressive retinal degeneration of Usher syndrome patients.
The scientists hope that the interdisciplinary collaboration will help further understanding of the clinical, genetic, and molecular background of Usher syndrome and will provide a valuable contribution to possible treatment approaches. The primary objective of the European research team is to improve the quality of life for Usher patients.Further information:
Petra Giegerich | idw
NYSCF researchers develop novel bioengineering technique for personalized bone grafts
18.07.2018 | New York Stem Cell Foundation
Pollen taxi for bacteria
18.07.2018 | Technische Universität München
For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.
To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...
For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.
Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...
Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.
A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...
Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.
"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....
Ultra-short, high-intensity X-ray flashes open the door to the foundations of chemical reactions. Free-electron lasers generate these kinds of pulses, but there is a catch: the pulses vary in duration and energy. An international research team has now presented a solution: Using a ring of 16 detectors and a circularly polarized laser beam, they can determine both factors with attosecond accuracy.
Free-electron lasers (FELs) generate extremely short and intense X-ray flashes. Researchers can use these flashes to resolve structures with diameters on the...
13.07.2018 | Event News
12.07.2018 | Event News
03.07.2018 | Event News
18.07.2018 | Materials Sciences
18.07.2018 | Life Sciences
18.07.2018 | Health and Medicine