Patient Allele Analysis
Accelerate your diagnosis with rapid clinical variant prototyping
- We provide information about your patient’s exact genetic allele in a whole organism context to help you decide what to do next
- We perform Clinical Variant Phenotyping using precision humanization of model systems to:
- Assign pathogenicity status to patient alleles.
- Identify therapeutic agents for reversing pathogenicity.
We can help you answer the following questions:
- What is the outcome of my patient’s specific genetic mutation?
- How can I help a patient with an allele that hasn’t yet been characterized?
- Can I determine potential treatment options for my patients with genetically linked diseases?
How it works
- Humanize an organism with the specific human gene and insert your allele of interest.
- Create appropriate control strains
- Confirm all strains via sequencing and other QC
- Assess transgenic strain(s), wild type(s), and controls using 1 or more phenotypic assays
Quantitative Analysis delivered to you:
- Transgenic vs. control data for each assay, including statistical significance.
- Comparison of transgenic vs. control overall, combining all assay scores. This single number can be used to quickly benchmark overall gene function.
See the sample report below.
We can also perform drug testing on strains of interest.
Sample report of Patient Allele Analysis
|Phenotype(s)||Measurement(s)||Transgenic vs Control||Knock-in vs. Wide Type||Allele vs. Wide Type|
|Health Span||% survival at 7 days||60%||60%||60%|
|Growth Rate||Time to adulthood||20%||20%||20%|
|Movement||Body bends per minute||70%||70%||70%|
|Fertility||Eggs laid per day||30%||30%||30%|
|Neuromuscular Function||Pump frequency (pharyngeal muscle)||40%||40%||40%|
|Neuromuscular Function||Pump amplitude (pharyngeal muscle)||90%||90%||90%|
|Neuromuscular Function||Pump duration (pharyngeal muscle)||90%||90%||90%|
|Neuromuscular Function||Coefficient of Variation (CV)||10%||10%||10%|
|Defecation||Cycles per minute||10%||10%||10%|
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.
Read the customer interview: How C. elegans are used for disease research
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)