Accelerate Your Diagnosis With Humanized Transgenics
The age of genomic and precision medicine is revolutionizing biomedical research and medical practices, but it is also revealing gaps in our knowledge of the genetics of disease. Each individual’s genome harbors a significant number of unique alleles that may impact the individual’s health in unpredictable ways. These are the clinical Variants of Uncertain (or Unknown) Significance (VUS). Assigning a functional status to identified alleles, whether benign or pathogenic, is a significant problem. New advances in genome engineering and phenotypic assessment are making it possible to go confidently from identification of a novel patient allele to a ClinVar assignment of variant activity with speed and ease using in vivo functional data.
“Humanized” animal models and the resulting quantitative phenotypic data are becoming a powerful tool to drive translational science to the next level and further advance personalized medicine.
Using humanized C. elegans or zebrafish as a model system, we can provide the transgenics you need for functional analysis of variant activity through the following steps:
- Confirm gene has impact on the disease pathway in C. elegans or zebrafish
- Create humanized model to confirm canonical sequence is functionally benign
- Assess pathogenicity of VUS alleles in native C. elegans genome and precision humanization system
- Explore potential therapies against the disease and disease variant
See how we explore new phenotypes using humanized worms
- Blog: Searching for a cure for Niemann-Pick Type C using C. elegans
- Poster: A humanized test system: Using pharyngeal pumping phenotypes as a readout for the serotonergic signaling pathway in C. elegans (presented at 2017 Int’l Worm Meeting