The ExonViz tool, which was developed last year, is part of a bigger project called Genetic Therapy Generator Toolkit (GTGT). GTGT automates and accelerates the identification of suitable variants for various genetic treatments. Although the focus of the tool will be on ASOs, it should eventually also be able, among others, to assess variants for gene editing technologies. Feel free to try this tool and let us know what you think.

We recently launched a second tool called TReXome DB which allows users to discover potential exon skipping therapy targets in genes with protein tandem repeat domains. Users can search and filter these genes by exon frame, exon length, and repeat count, and even restrict to disease-associated genes curated for genetic therapy suitability. In practice, researchers or clinicians can look up a gene of interest, see if it contains protein tandem repeats, and use the filters to find feasible skipping candidates that might restore function.

The genes and diseases with neurological phenotypes that are possibly eligible for ASO therapy have been checked by us and can be found in this list. The list is not exhaustive so please contact us if there is a gene we should add.