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New therapy for childhood blindness shows very promising results

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Reviewed by Alina Shrourou, B.Sc. (Editor)Dec 18 2018A new therapy aimed at improving the sight of people with one of the most common forms of childhood blindness, has shown ‘very promising’ initial results, according to a study involving UCL researchers.As part of a clinical trial, ten patients with Leber congenital amaurosis type 10 (LCA10), had one of their eyes injected with a therapeutic molecule, known as QR-110, with the other eye left untreated, providing a base for comparison.The patients were injected at regular intervals, and the results, published in Nature Medicine, showed QR-110, had no adverse effects and vision had improved in patients at three months.One patient responded exceptionally well and after six weeks of treatment self-reported substantial visual improvements and, for the first time in decades, was able to see lights with increasing clarity and brightness – but only in the treated eye. At four months the patient was able to read the first three lines of the standard ETDRS eye test, showing the visual acuity (clarity of vision) has improved from light perception to 20/400 vision.The clinical trial was undertaken by study collaborators at the University of Pennsylvania, University of Iowa and University of Ghent.Co-author Professor Mike Cheetham (UCL Institute of Ophthalmology) led the pre-clinical research and worked with scientists from ProQR Therapeutics, Netherlands, to develop the QR-110 treatment.”Our work on helping to develop QR-110, used patient stem cells to make a ‘retina in a dish’ to show QR-110 could potentially work for this devastating early onset blindness,” he said.”It is really exciting to see the treatment in clinical trial and initial results are very promising, showing some real benefit to patients. It seems to be safe and is improving the vision of these severely visually impaired patients.”Hopefully the patients will continue to improve and more patients can be treated in the near future.”LCA10 is a severe, early-onset inherited retinal disease associated with changes in the gene CEP290. This gene provides the instructions for building a protein that is essential for the formation and stability of the light sensitive outer segment of photoreceptor cells. One specific mutation is the single most common cause of LCA and is found in 60-90% of people with LCA10. This results in incorrect editing and interpretation of the genetic code during protein construction, so that retinal cells end up with a significantly reduced amount of normal, fully functional CEP290 protein.Related StoriesLong-term statin use linked to lower risk of glaucomaSmartphone-based telemedical DR screening could improve ophthalmic careFACS-based CRISPR screening shows how Chlamydia bacterium invades host cellsThe pre-trial research team, led by Professor Cheetham, developed proof of concept that molecules, called antisense oligonucleotides, could silence the effect of this mutation so that the gene splicing machinery can make the correct protein. They then worked with ProQR to develop a clinically applicable antisense oligonucleotide and found that the molecule QR-110 was most effective at achieving this and was able to restore levels of normal CEP290 protein in cells from individuals with LCA10. This was possible by using a ‘retina in a dish’ model made from LCA10 patient stem cells, and the results showed improved photoreceptor structure. QR-110 was also very specific in targeting the mutation without influencing other parts of the genome (genetic code).The researchers established that QR-110 was well tolerated in animal models, and reached all layers of the retina, lasting a suitable length of time in the eye, making it a promising candidate for clinical testing. This work led to the human clinical trials now being reported on.Professor Cheetham added: “I think this opens up the possibility of treating many forms of inherited blindness with drugs similar in design to QR-110, small antisense oligonucleotides that are specifically to correct genetic faults.”Director of Research, Dr Neil Ebenezer from Fight for Sight, who provided some of the funding for the preclinical work, said: “We helped to fund the initial research that proved this genetic technique could work in the lab, and it was this groundwork that led to the clinical trial. It is fantastic that the clinical trial is now bringing us one step closer to having an effective treatment for patients with Leber congenital amaurosis.” Source:https://www.ucl.ac.uk/ read more

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Higher levels of physical activity not linked to greater volume or activity

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New sensor for measuring electric field strength

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Schematics of the sensor: the moveable and the fixed grid. Credit: TU Wien Accurately measuring electric fields is important in a variety of applications, such as weather forecasting, process control on industrial machinery, or ensuring the safety of people working on high-voltage power lines. Yet from a technological perspective, this is no easy task. A moveable grid made of silicon is displaced in an electric field, relative to another grid, which is fixed. Credit: Vienna University of Technology Journal information: Nature Electronics Tiny new sensor — compared to a one-cent-coin. Credit: TU Wien Team develops new semiconductor processing technology Explore further More information: Vittorio Ferrari, Distortion-free probes of electric field, Nature Electronics (2017). DOI: 10.1038/s41928-017-0013-9 Provided by Vienna University of Technology This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only. The sensor developed by the team at TU Wien is made from silicon and is based on small, grid-shaped silicon structures measuring just a few micrometres in size fixed to a small spring. When the silicon is exposed to an electric field, a force is exerted on the silicon crystals, causing the spring to compress or extend slightly.These tiny movements are made visible via an optical solution—an additional grid located above the movable silicon grid is lined up so precisely that the grid openings on one grid are concealed by the other. When an electric field is present, the structure moves slightly out of perfect alignment with the fixed grid, allowing light to pass through the openings. This light is measured, from which the strength of the electric field can be calculated by an appropriately calibrated device.Prototype achieves impressive levels of precisionThe new silicon sensor does not measure the direction of the electric field, but its strength. It can be used for fields of a relatively low frequency of up to one kilohertz. “Using our prototype, we have been able to reliably measure weak fields of less than 200 volts per metre,” says Andreas Kainz. “This means our system is already performing at roughly the same level as existing products, even though it is significantly smaller and much simpler. Other methods of measurement are already mature approaches—we are just starting out. In the future, it will certainly be possible to achieve significantly better results with our microelectromechanical sensor.” Citation: New sensor for measuring electric field strength (2018, January 25) retrieved 18 July 2019 from https://phys.org/news/2018-01-sensor-electric-field-strength.html In a break from the design principle employed by all other measuring devices to date, a research team at TU Wien has now developed a silicon-based microelectromechanical (MEMS) sensor. Devised in conjunction with the Department for Integrated Sensor Systems at Danube University Krems, this sensor has the major advantage that it does not distort the very electric field it is currently measuring. An introduction to the new sensor has also been published in the electronics journal Nature Electronics.Distorting measuring devices”The equipment currently used to measure electric field strength has some significant downsides,” explains Andreas Kainz at TU Wien. “These devices contain parts that become electrically charged. Conductive metallic components can significantly alter the field being measured, an effect that becomes even more pronounced if the device also has to be grounded to provide a reference point for the measurement.” Such equipment also tends to be relatively impractical and difficult to transport. read more

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Four ways blockchain could make the internet safer fairer and more creative

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As road rage incidents rise exponentially call for legal definition punishments gets

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Molinari sighting at Scottish Open as Edoardo ties for lead

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