Phenotype Discovery Made Easy
Description: Many human diseases are caused by mutations in the genome. Recent progress in DNA sequencing has identified massive amounts of rare alleles that appear to be clinically associated with a disease. Yet, definitive proof of pathogenicity remains unknown for many of the uncovered clinical variants.
RediMODEL is a novel way to determine if mutations in important genes cause disease. Using humanized C. elegans as a model system, individual human mutations are inserted into the animal model genome, the humanized animal model with clinical variant installed is then screened with simple protocols for its effects on normal gene function. Allele pathogenicity becomes likely when an installed human mutation shows deviant behavior in the animal model. Further, any alleles with likely pathogenicity can be used as a platform for compound screening. Molecules restoring native function in the mutant animal model can then be used as hits in drug development.
RediMODEL Kits - 3 types of C. elegans animal models engineered for human disease discovery.
- gene knock-out - disease gene homolog removed.
- humanized wt gene - humanized worm containing disease gene.
- clinical variant allele - genetic SNP suspected of pathogenicity.
Fast - Ready to use in 2 days.
Easy - Clear protocols of activity.
Precise - Quantifiable phenotypes.
Accurate - Disease-relevant biology.
Simple - C. elegans experience not required.