Dr. Chris Hopkins is helping pioneer the use of humanized animals for personalized medicine applications. With the top 20 highly-annotated genes in Clinvar having over 80% of known variants as either not annotated or assigned as Variant of Uncertain Significance, clinician’s need access to systems for rapid functional characterization of variant pathogenicity. As a solution, Dr. Hopkins, in his role as CSO of NemaMetrix, is leading a team using precise gene editing to create human gene variation models. Precision gene-swap insertion of human cDNA in C elegans and point mutation insertion in zebrafish creates a platform for determining the functional consequence of any molecular coding variant. These humanized systems helps researchers characterize biological function, provide pathogenicity assessments for clinicians, and allow drug development companies to screen for therapeutics that reverse a variant’s deviant phenotype back to wildtype behavior.
Clinical & Research Tools Showcase: NemaMetrix
NemaMetrix provides alternative animal model systems as tools of clinical assessment and drug discovery.
Rapid Pathogenicity Assessment in Alternative Animal Models
NemaMetrix introduces Functionalized ClinPhen – a platform for rapid assessment of pathogenicity in patient genome variants. Learn about successful geneswap rescue in STXBP1, CACNB4 and KCNQ2. Observe phenotypic measurements of gain and loss of function phenotypes in pathogenic alleles.