Balanced translocation linked to psychiatric disorder, glutamate, and cortical structure/function.

Rare genetic variants of large effect can help elucidate the pathophysiology of brain disorders. Here we expand the clinical and genetic analyses of a family with a (1;11)(q42;q14.3) translocation multiply affected by major psychiatric illness and test the effect of the translocation on the structure and function of prefrontal, and temporal brain regions.

Progress in imaging the effects of psychosis susceptibility gene variants.

Genetic imaging has become an increasingly popular tool that utilizes neuroimaging techniques to investigate the impact of genetic variation on the structure, function and connectivity of the brain. Combining genetic and neuroimaging domains is a promising approach to further the understanding of the neural mechanisms involved in mediating the effect of genetic variants on psychosis risk, with the potential to explore individual vulnerability to psychiatric illness. Imaging genetics approaches have successfully been applied to a wide range of risk genes for schizophrenia.

Effects of a mis-sense DISC1 variant on brain activation in two cohorts at high risk of bipolar disorder or schizophrenia.

Bipolar disorder and schizophrenia share a number of clinical features and genetic risk variants of small effect, suggesting overlapping pathogenic mechanisms. The effect of single genetic risk variants on brain function is likely to differ in people at high familial risk versus controls as these individuals have a higher overall genetic loading and are therefore closer to crossing a threshold of disease liability. Therefore, whilst the effects of genetic risk variants on brain function may be similar across individuals at risk of both disorders, they are hypothesized to differ compared to that seen in control subjects.