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
Rainbow colors reveal cell history: Uncovering β-cell heterogeneity
22.09.2017 | DFG-Forschungszentrum für Regenerative Therapien TU Dresden
The pyrenoid is a carbon-fixing liquid droplet
22.09.2017 | Max-Planck-Institut für Biochemie
Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.
A warming planet
Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.
The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...
Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...
Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!
When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...
For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.
Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...
19.09.2017 | Event News
12.09.2017 | Event News
06.09.2017 | Event News
22.09.2017 | Life Sciences
22.09.2017 | Medical Engineering
22.09.2017 | Physics and Astronomy