Schizophrenia is a disabling psychiatric disorder with enormous personal, societal and economic cost. Despite its strong genetic component, the underlying genetic architecture of schizophrenia remains largely unknown.

The Western Australian Family Study of Schizophrenia (WAFSS) has been run by the Centre for Clinical Research in Neuropsychiatry (CCRN) under the direction of Professor Assen Jablensky for more than 20 years. The WAFSS includes data from more than 100 families with diagnoses of schizophrenia.

Our collaboration with CCRN has enabled us to gather whole genome sequence data for nearly 400 WAFSS participants (comprising 113 cases of Schizophrenia or Schizophrenia spectrum disorders). We are using this sequence data to search for rare risk variants shared among related affected individuals and contributing to the aetiology of the disorder.

This study is among the first worldwide to employ novel, whole-genome sequencing of a cohort of families with schizophrenia or schizophrenia-spectrum disorders, in the search for rare genetic variation. Our findings are likely to provide a major contribution to understanding the genetic origins of this group of conditions.


This project is a collaborative effort between researchers at GOHaD, The University of Western Australia, Curtin University, the Centre for Clinical Research in Neuropsychiatry (CCRN), and The University of Texas Rio Grande Valley (UTRGV).


Selected publications

  • Glahn, D. C., V. L. Nimgaonkar, H. Raventós, J. Contreras, A. M. McIntosh, A. Jablensky, N. S. McCarthy, N. B. Blackburn, J. M. Peralta, S. A. Ament, F. J. McMahon, M. Bucan, J. E. Curran, L. Almasy, R. E. Gur and J. Blangero (2018). “Rediscovering the Value of Families for Psychiatric Genetics Research.” Mol Psychiatry: epub. [pubmed]
  • Khan, F. F., E. Melton, N. S. McCarthy, B. Morar, J. Blangero, E. K. Moses and A. Jablensky (2018). “Whole Genome Sequencing of 91 Multiplex Schizophrenia Families Reveals Increased Burden of Rare, Exonic Copy Number Variation in Schizophrenia Probands and Genetic Heterogeneity.” Schizophrenia Research: 197: 337-345. [pubmed]
  • McCarthy, N. S., J. C. Badcock, M. L. Clark, E. E. M. Knowles, G. Cadby, P. E. Melton, V. A. Morgan, J. Blangero, E. K. Moses, D. C. Glahn and A. Jablensky (2017). “Assessment of Cognition and Personality as Potential Endophenotypes in the Western Australian Family Study of Schizophrenia.” Schizophrenia Bulletin: 44(4): 908-921. [pubmed]
  • McCarthy, N. S., P. E. Melton, S. V. Ward, S. M. Allan, M. Dragovic, M. L. Clark, B. Morar, J. P. Rubio, J. Blangero, J. C. Badcock, V. A. Morgan, E. K. Moses and A. Jablensky (2016). “Exome array analysis suggests an increased variant burden in families with schizophrenia.” Schizophrenia Research 185: 9-16.  [pubmed]
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