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 if you ask the following questions:
- Are you trying to understand the outcome of a specific genetic mutation?
- Do you have a patient with an allele that hasn’t been characterized?
- Do you want to figure out potential treatment options for a patient with a genetically linked disease?
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
Analysis delivered to you:
- Raw data for each assay
- % similarity to wide type overall
- % similarity to wide type for each assay
- Transgenic worm or zebrafish (if desired)
See the sample report below.
We can also perform drug testing on strains of interest.
Sample report of Patient Alleles 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||40%||40%||40%|
|Neuromuscular Function||Pump amplitude||90%||90%||90%|
|Neuromuscular Function||Pump duration||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.
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)