This technology is a method for accurately predicting disease phenotypes based on patients’ unique genetic mutation types that can be used for personalized therapeutics.
Diseases like autism spectrum disorder (ASD) often have variable clinical outcomes stemming from genetic mutations such as likely gene disruption mutations (LGD), but the contributions of these LGDs to the phenotypic heterogeneity and severity has remained unclear. An mRNA surveillance mechanism called nonsense-mediated decay (NMD) could modulate disease phenotypes in such genetic disorders. There are currently no clinically helpful methods to predict patient phenotypes from their genotypic mutations accurately through NMD.
This method, called phenotype dosage sensitivity (PDS), predicts phenotypes of genetic disorders from LGD mutations with increased accuracy. A variety of blood or tissue samples can be used for sequencing, and through NMD, the expression intensity of an exon harboring a genetic mutation can be strongly correlated with the patients’ clinical outcomes. This technology could be applied to predict an individual with autism’s IQ, behavioral phenotypes, motor phenotypes, and the severity of autism. By identifying unique exon mutation locations, personalized therapeutics could be designed using PDS to specify drug targets and mitigate genetic disorders.
This technology has been validated with genetic and phenotypic data collected in the Simons Simplex Collection (SSC) and Simons Variation in Individuals Project (VIP).
Patent Pending (US 20230109065)
IR CU21310
Licensing Contact: Sara Gusik
