EP090: Precision medicine modelling for undiagnosed and rare disease

Abstract

Despite advances in exome, genome, and RNA sequencing, up to 60-70% of individuals with suspected genetic disorders remain undiagnosed likely because their pathogenic variants have not yet been discovered. Alternatively, some individuals may remain undiagnosed because the clinical significance of identified variants is unclear. The Undiagnosed Diseases Network (UDN) Model Organism Screening Center (MOSC) has successfully utilized various genome editing techniques in the fly, worm and zebrafish to model human variants and provide data supporting the interpretation of variants of uncertain significance.