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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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There will be a trial, but what can we do now?

Last week we received the great news about the upcoming first trials in the study into Usher Syndrome. Foundation Fighting Blindness will invest $7,5 million in the pharmaceutical company ProQR for setting up the first clinical trial for patients with retina degeneration caused by mutations in USH2A exon 13. This concerns a pre-clinical development and a clinical study (phase 1/2) in which the safety and therapeutic efficacy for patients will be tested.
In November 2016, Ushersyndroom Foundation and Radboudumc announced that Erwin van Wijk had achieved a breakthrough in the research into Usher Syndrome. See ‘A step closer to genetic therapy’
Erwin van Wijk developed a strategy (exon-skipping) in which the faulty piece at mRNA level can very accurately be covered by a ‘genetic patch’, the so-called antisense oligonucleotides. Apparently, after having skipped mutant USH2A exon 13 in zebra fishes, the usherin protein is produced again. Despite …

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