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Fotoboek: Beyond the Muted Darkness

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  • Grote uitdagingen in onderzoek naar Usher

    De droom van mensen met Ushersyndroom is dat onderzoekers op tijd een behandeling vinden om het doof én blind worden te stoppen. Ushersyndroom is niet op te lossen met 1 onderzoek of doorbraak.



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Study of the natural Development for USH1B started

Research into the natural development of Usher Syndrome is essential in the phase of therapeutic scientific developments. Many and detailed eyesight and hearing measurements are to be recorded in order to be able to measure the effectiveness of a future therapy. Only after studies have demonstrated the effectiveness of a therapy, this will be made available to patients on a large scale.
18% of the 400,000 patients suffering from Usher Syndrome around the world has mutations in the USH1 gene. Due to the mutations (changes) in the USH1B gene the myosin protein is not or hardly produced. Due to a shortage of the myosin protein the cochlea in the ear of the unborn child is not properly built up during pregnancy. Consequently, children suffering from USH1B are born deaf and have balance problems. The first signs of reduced eyesight will show during childhood. This starts with night-blindness to be followed by …

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