A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for -associated retinitis pigmentosa.

Loss-of-function mutations in are among the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP). We previously presented skipping of exon 13 as a promising treatment paradigm for -associated RP. However, RP-associated mutations are often private, and evenly distributed along the gene.

Generation of Humanized Zebrafish Models for the In Vivo Assessment of Antisense Oligonucleotide-Based Splice Modulation Therapies.

Antisense oligonucleotide (AON)-based splice modulation is the most widely used therapeutic approach to redirect precursor messenger RNA (pre-mRNA) splicing. To study the functional effect of human mutations affecting pre-mRNA splicing for which AON-based splice redirection would be a potential therapeutic option, humanized knock-in animal models are pivotal. A major limitation of using humanized animal models for this purpose is the reported poor recognition of human splice sites by the splicing machineries of other species.

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for -Associated Retinitis Pigmentosa.

Retinitis pigmentosa (RP) is an inherited retinal disease (IRD) with an overall prevalence of 1 in 4000 individuals. Mutations in () are among the most frequent causes of non-syndromic autosomal recessively inherited RP and act via a loss-of-function mechanism. In light of the recent successes for other IRDs, we investigated the therapeutic potential of exon skipping for -associated RP.

Opportunities and Pitfalls in Applying Emotion Recognition Software for Persons With a Visual Impairment: Simulated Real Life Conversations.

Background: A large part of the communication cues exchanged between persons is nonverbal. Persons with a visual impairment are often unable to perceive these cues, such as gestures or facial expression of emotions. In a previous study, we have determined that visually impaired persons can increase their ability to recognize facial expressions of emotions from validated pictures and videos by using an emotion recognition system that signals vibrotactile cues associated with one of the six basic emotions.