Text: Maartje de KokPhoto and video: Richard Brusse Patient and researcher form a tandem in scientific research into Usher Syndrome Usher Syndrome patients and researchers of Radboudumc set the tandem in motion again for scientific research into a treatment for Usher Syndrome, this time concerning type 2C. After the successful USH2A Minigenes

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So far, one Usher gene is known with respect to Usher Syndrome type 3, being USH3A. The USH3A gene does the coding for the ‘clarin-1’ protein. The USH3A gene is sometimes also called CLRN1, an abbreviation of clarin-1. Usher Syndrome type 3A mainly occurs with people with a Finnish background

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Mutations in three different genes may lead to Usher Syndrome 2. USH2a, ADGRV1 (= USH2c) and WHRN (= USH2d). Also, mutations in the USH2d gene have been described which only lead to non-syndromic loss of hearing with patients. People suffering from non-syndromic loss of hearing are hard of hearing, but do not

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Usher Syndrome knows six different genes (USH 1B, 1C, 1D, 1F, 1G and 1J) and many different mutations. Additional information about these genes, the Usher proteins involved and the various mutations in these USH1 genes are to be found in ‘Usher Syndrome and DNA diagnostics’. Which developments, innovations and studies

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Usher Syndrome type 1 knows six different genes (USH 1B, 1C, 1D, 1F, 1G and 1J) and many different mutations. Additional information about these genes, the proteins involved and the various mutations in these USH1-genes is to be found in ‘Usher Syndrome and DNA diagnostics’. Which developments, studies and clinical