Abstract
Variants of Uncertain Significance (VUS) represent a startling percent of the reported alleles in disease causing genes, yet the functional consequence of VUS remains unclear. Uncertainty within the variant pool drastically reduces the utility of diagnostic genetic tests, inhibits clinicians from obtaining an unfettered understanding of patients’ disease biology, and obstructs the possible pursuit of suitable therapies. The Precisome™ Platform addresses this unique challenge by explicitly targeting the ambiguous variant landscape via humanized animal models.
The Precisome™ Platform methodology creates humanized animal models to serve as Clinical Avatars of an individual patient or patient population. C. elegans humanized ADCY5 model strains can rapidly probe a patient’s disease biology, provide distinct functional analysis of the pathogenic verses benign variant landscape, and yield high quality assessments of VUS pathogenicity. This innovative technique provides the tools for rapid analysis of genomic variants towards the ultimate goals of generating risk stratification models, increasing patient management options, and potentially repurposing existing therapeutics.
NemaMetrix is the market leader for early preclinical in-vivo testing using small animal models such as C. elegans and zebrafish to gain a better understanding of the efficacy, mode of action, toxicity and potential targets for novel compounds.
