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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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Development of a therapy for USH type 1

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 trials are presently going on for people suffering from Usher Syndrome type 1? Today we will discuss the development of medicines.
Medicines for improved release of neurotransmitters with USH1B USH1B is caused by mutations in the MYO7A gene. In the USA Alaa Koleilat is, under supervision of Dr Lisa Schimmenti (Mayo Clinic, USA), working on the development of a medicine for treating USH1B. She makes use of zebrafishes with mutations in the MYO7A gene, because this zebrafish model for USH1B shows serious deafness and balance problems. Because of their balance problems, these zebrafishes swim in circles. Apart …

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