Genomics and the nature of schizophrenia

Recent genomic studies have begun to reveal the genetic architecture of schizophrenia and to give important insights into the nature of the disorder and its relationship to other psychiatric diagnoses. Genetic risk does not map onto the syndromic definitions of disease that are used in the clinic. This, along with the lack of clear boundaries between disorders, suggests that there are likely to be overlapping mechanisms at work and that current diagnostic categories may not be optimal for stratifying cases for research into aetiology and pathogenesis.

However, despite the undoubted complexity and the fact that much of the genetic risk remains unaccounted for at the DNA level, there are encouraging signs that the genes implicated converge onto sets of plausible biological processes. In particular, recent genetic data point to defects of synaptic and dendritic function and implicate mechanisms involved in brain plasticity that are important in development and in learning and cognition. While these are almost certainly not the only processes involved, they provide robust entry points for clinical and basic neuroscience research.


Professor Mike Owen is Director of the Medical Research Council’s Centre for Neuropsychiatric Genetics and Genomics, and Head of the Department of Psychological Medicine and Clinical Neurosciences in Cardiff University. His research has focused on the genetics of major psychiatric and neurodegenerative disorders. This has allowed him to study the impact of genetic risk factors across diagnostic boundaries and to identify specific sets of proteins involved in disease pathogenesis. As well as continuing his work on psychiatric genetics, he is currently undertaking research aimed at translating recent genetic findings into a greater understanding of disease mechanisms and into the development of novel biomarkers to aid classification and diagnosis. He was awarded the Stromgren Medal for psychiatric research in 2011, the Lieber Prize for schizophrenia research in 2012, and the William K Warren Distinguished Investigator Award for schizophrenia research in 2013. He has published over 600 scientific papers and is a Thompson Reuters Highly Cited Researcher. In addition, he continues to work as a Consultant in General Adult Psychiatry and was knighted for services to psychiatry and neuroscience in 2014.