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Updated: Jul 3, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Genetic causality in schizophrenia and bipolar disorder: out with the old and in with the new
1Medical Genetics Section, University of Edinburgh Centre for Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK. david.porteous@ed.ac.uk
Abstract:
Schizophrenia (SZ) and bipolar disorder are highly heritable forms of major mental illness. Great hopes were held out for a major breakthrough with the advent of genome wide association studies, but to date there have been no obvious low hanging fruit. A richer harvest of strong candidates has however emerged from molecular cytogenetics and copy number variant mapping strategies promise to add more. Both strategies identify gene mutations, paving a direct path to biological studies and tests of causality. Risk genes and convergent biological pathways common to both disorders are being revealed, offering hope for a better understanding of aetiological factors and for the development of biomarkers to aid in diagnosis and prognosis.
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