(Nederlandse Ondertitels) Usher syndrome (USH) is the most common genetic cause of combined deaf-blindness. The hearing loss caused by Usher syndrome (USH) can be partly compensated by providing patients with hearing aids or cochlear implants, but the loss of vision is currently untreatable. In this USH Talk, Dr. Erwin van Wijk shows that AON-based splice correction could be a promising approach for the development of a future treatment for USH2A-associated retinitis pigmentosa caused by the deep-intronic c.7595-2144A>G mutation.
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Speaker Bio: Dr. Erwin van Wijk is an Associate Professor affiliated with the department of Otorhinolaryngology of the Radboud University Medical Center Nijmegen. He got his PhD in Medical Genetics (Cum Laude) in 2009. After his PhD, he was awarded with a KNAW travel grant to perform a research fellowship within the group of Dr. Nicholas Katsanis (Johns Hopkins Medical Institute, Baltimore, USA) to acquire the skills of zebrafish maintenance and handling. After this work visit, he successfully introduced the zebrafish model within the Radboud University Nijmegen. Currently, his research focuses on unraveling the pathogenic mechanisms underlying Usher syndrome and the development of a genetic therapy for USH2A-associated retinitis pigmentosa using zebrafish as a model organism.