Related Experiment Video
Updated: Feb 15, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and
David St Clair1, Mandy Johnstone2,3,4
1Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, UK d.stclair@abdn.ac.uk.
Abstract:
Solid progress has occurred over the last decade in our understanding of the molecular genetic basis of neurodevelopmental disorders, and of schizophrenia and autism in particular. Although the genetic architecture of both disorders is far more complex than previously imagined, many key loci have at last been identified. This has allowed in vivo and in vitro technologies to be refined to model specific high-penetrant genetic loci involved in both disorders. Using the DISC1/NDE1 and CYFIP1/EIF4E loci as exemplars, we explore the opportunities and challenges of using animal models and human-induced pluripotent stem cell technologies to further understand/treat and potentially reverse the worst consequences of these debilitating disorders.This article is part of a discussion meeting issue 'Of mice and mental health: facilitating dialogue between basic and clinical neuroscientists'.
Related Concept Videos
Mutation, Gene Flow, and Genetic Drift
Viral Mutations
Mutations
Transgenic Organisms
Schizophrenia
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...

