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Updated: Aug 22, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Genetic variation and susceptibility to schizophrenia: Work in progress
1School of Medical Indigenous and Health Sciences, Moleculer Horizons, University of Wollongong, NSW 2522, Australia.
Abstract:
After finishing my pharmacy studies, I became interested in undertaking a PhD in the genetics of psychiatric disorders, specifically, the genetics of schizophrenia. At this time in 1990, only limited information about the human genome was available. Still, the research soon picked up some speed with introduction of the polymerase chain reaction (PCR) into research laboratories and the growing knowledge about the structure of the human genome. In my research, I aim to identify altered genes that increase the susceptibility to schizophrenia. The idea was that identifying these genes allows an understanding of the underlying biochemistry, therefore facilitating the development of targeted pharmacotherapies. While we have come closer to achieving this aim, the complexity of the identified genetic architecture and the phenotypes implies that there is still much research to be completed before we can achieve this aim.
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