Performing sequence analysis on a patient with a suspected genetic disease is becoming a standard of care. However, when a genetic variation is identified as pathogenic or possible pathogenic in a disease state, clinicians and patients are still faced with making difficult care decisions.
Far too frequently the diagnosis does not provide a clear therapeutic or preventive alternative. This scenario is especially challenging in rare diseases, since over 90% of them do not currently have an approved treatment.
Precisome™ Clinical Avatar Technology models patient genomic variant data and produces a more comprehensive clinical report from the genomic data and gives clinicians the confidence to deliver an accurate disease assessment to their patients.
Here is what we can do with the Precisome™ Clinical Avatar Technology:
Personal Genetic Insertions Build Animal Avatars of Disease Biology.
Precisome™ has pioneered rapid humanization and phenotyping for homologous genetic diseases. We are able to engineer model organisms from our library with potentially pathogenic variants, creating multiple customized Patient Avatars.
Using genome engineering technology, such as CRISPR/Cas9, we create animal models expressing human disease genes with an inserted patient gene variant. We then analyze the effects of these genes on the biology of the animal. The clinician gets patient-specific data revealing if pathogenic mechanisms are activated by the genetic variant condition.
Clinical Variant Phenotyping – Information about your patient’s exact genetic allele in a whole organism context.
Patient Avatars undergo a battery of quantitative phenotyping assays in order to determine the pathogenicity of each identified variant. Our assays analyze changes in motility, longevity, neuromuscular signaling, and more. We continuously develop new assays in order to increase the likelihood of identifying and quantifying the effects of pathogenic alleles. 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?
Animal Avatars Revealing Therapeutic Best Fit
Often there are multiple choices for treatment of a disease. However, many times, an effective treatment regimen can take an extended period of time to develop. The Precisome Technology in combination with a variety of drug treatment regimens helps determine which therapies can ameliorate the effects of the identified pathogenic variants.
For disease conditions in which many therapeutic options are available, we screen the available drugs to find which drug has best potential to reverse disease phenotype. In conditions where therapeutic options are limited, we can screen market-available drugs to explore repurposing to the patient’s condition. When necessary, novel compound libraries can be explore to find unique entities of high therapeutic potential.
Uncover Potential Treatment Options
We provide a report elucidating the potentially pathogenic and non-pathogenic variants, including how variants were identified, their impact on the genes in our assays, and the effects of different therapies. We’ll also provide all contextual reference information for the variants. This report is a powerful tool for patients and physicians in determining a treatment plan.