Testing Pathogenicity of Genetic Variants in Intellectual Disability (ID) Genes in a Human Neuronal System

Abstract

In this project we will test the hypothesis that a lack of ID-associated proteins associated with haploinsufficiency disease mechanisms affects induced pluripotent stem cell (iPSC)-derived human neuronal morphology and that this readout can be used with rescue experiments to examine the function and pathogenesis of variants of uncertain significance in the relevant gene. We will assess whether throughput of this approach makes it amenable for use in an NHS diagnostic setting.