Clinical Variant Phenotyping uses precision humanization of model systems to:
- Assign pathogenicity status to patient alleles.
- Identify therapeutic agents for reversing pathogenicity.
Variants of Uncertain Significance (VUS allele)
Genomic discoveries have revolutionized biomedical research. Clinicians now routinely use genomic data to decide treatment options. Yet genomic complexity creates a challenging problem – each person has 100s of gene variations that may or may not have a known association with a disease. These individual genetic differences (a person’s genotype) can have a profound effect on a person’s physiology (phenotype). A majority of the genomic differences found in individuals are currently classified as Variants of Uncertain Significance (VUS allele).
Assigning the phenotypic contribution of a VUS allele as benign or pathogenic is needed, but remains challenging. Computational approaches can help, but definitive findings require an in-vivo gene function assessment.
Learn more about our Alzheimer’s disease and Epilepsy panels
Precision Humanization of Model Systems
The humanized model systems can ultimately guide clinicians to an appropriate personalized medical approach for their patient through:
- Assessing pathogenicity – patient-derived variants are expressed and analyzed for possible pathogenic contribution to disease.
- Exploring potential therapies – humanized model systems can be screened to find drugs that restore proper gene function.
See how we explore new phenotypes using humanized nematodes
- 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)