“Ultimately, the goal of the research is to understand the pathophysiology of the disease, in the hope that this will lead to better treatments, and potentially to diagnostic and prognostic tests.”

Finding the genes that explain the high heritability of schizophrenia has been a major task in biological psychiatry. This review was written in light of two recent meta-analyses, and several individual studies, that meant by early 2003 substantial progress had finally been made. The review has been heavily cited partly because schizophrenia genetics is a topic of broad interest, but also because it was the first review to go beyond just summarizing the emerging genetic evidence and to suggest that there may be a shared mechanism by which the genes operate: specifically, that the genes modulate glutamate and synaptic dysfunction in the disorder (see Figure).

I have been studying the neurobiology of schizophrenia field for 15 years or so. Previously our studies were largely neuropathological, but as the genetic discoveries began to mount, my group moved increasingly to focus upon how the genes operate within the brain. Not being a geneticist, I co-wrote the review with Mike Owen, Professor of Psychiatry at Cardiff University, who is one of the leading schizophrenia geneticists.

Ultimately, the goal of the research is to understand the pathophysiology of the disease, in the hope that this will lead to better treatments, and potentially to diagnostic and prognostic tests. Whether this actually proves to be the case, and when the research impacts on clinical practice, remains to be determined. In addition, severe psychiatric disorders such as schizophrenia continue to carry a major stigma. Any progress we can make in understanding them as medical disorders will, I think, reduce this, of benefit both to patients and their families.