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Patient allele phenotyping

A rapid, low-cost approach to solve the “VUS problem”

The presence of VUS (Variants of Uncertain or Unknown Significance) alleles in a patient population clouds the ability of the health care providers to make clear diagnostic recommendations. Shifting the assignment towards either pathogenic or benign status is key to treat certain diseases.

Variant function testing in rodent models is a well-established approach, but is slow and expensive. New CRISPR-based technology has enabled rapid, low-cost genetic manipulations to ‘humanized’ animal models, which can be used to detect aberrant function of the variant.

We have developed the Precisome™ Platform using invertebrate whole animal models to rapidly and inexpensively perform functional analysis of variants and provide functional data on genes and variants. 

PrecisomeTM Multi-dimensional Functional Analysis: data modeling to measure mobility and morphology.

PrecisomeTM Multi-dimensional Functional Analysis: Data modeling to measure neuromuscular activities using electropharyngeogram (EPG).

Our Process

  • Step 1: Confirm gene has impact on the disease pathway in C. elegans.
  • Step 2: Create Humanized Model
  • Step 3: Assess function of VUS alleles in genetically Humanized Model
  • Step 4: Perform quantitative analysis using multi-dimensional analysis.

WHITE PAPER: Benign or Pathogenic? Functional Assessment of Variants to Determine Gene Variant Effects on Disease Pathological State.
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Diseases and animal models

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).

This classification is needed for its ability to guide individualized patient therapy. Computational approaches are also a valuable tool, but definitive findings require the in-vivo gene function assessment provided through phenotypic analysis.

Our CSO, Chris Hopkins, speaking about our Precisome™ Platform and using C. elegans to study changes in the STXBP1 gene. You can view the slides here.

Ready to Get Started?

Ready to connect with us to learn more about working with our company or our technology?

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