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Home Clinical Clinical News Irish scientists participate in groundbreaking schizophrenia study

Irish scientists participate in groundbreaking schizophrenia study

Important new findings on the genetics of schizophrenia have been discovered by an international team of researchers, including specialists from Trinity College Dublin (TCD) and the Royal College of Surgeons in Ireland (RCSI).


The International Schizophrenia Consortium involves 66 researchers across Europe, the US and Australia. The team are examining the hypothesis that rare copy number variation (CNV) events cause neuropsychiatric diseases by affecting genes with specific brain functions.

“Under these circumstances, we expect that CNV events in such cases should impact brain-function genes more frequently than those events in controls,” wrote the authors.

Previous publications have applied “pathway” analyses to genes within neuropsychiatric case CNVs to show enrichment for brain-functions.

“While such analyses have been suggestive, they often have not rigorously compared the rates of CNVs impacting genes with brain function in cases to controls, and therefore do not address important confounders such as the large size of brain genes and overall differences in rates and sizes of CNVs,” the authors added.

Among those involved in the study were RCSI’s Professor John Waddington, professor of molecular and cellular therapeutics, and Dr Aiden Corvin and Professor Michael Gill from the Neuropsychiatric Genetics Research Group at TCD.

The Irish-based collaborators participated in the study under the leadership of Dr Shaun Purcell and Dr Mark Daly of Harvard University in the US.

Prof Waddington commented: “Accumulation of the large number of subjects necessary for studies such as this is achieved most readily by collaboration between individual research groups who pool their resources. In this study samples of 2,415 and 3,181 control subjects and 3,391 patients participated.

“The findings indicate that the majority of structural genetic variation in schizophrenia involves genes associated particularly with the activity of nerve cells and brain processes related to learning. However, much remains to be done to understand how abnormal brain cells, psychiatric symptoms and functional impairment arise from these genetic variations,” he added.

According to Prof Waddington, recent studies have demonstrated a statistically significant excess of rare CNVs in individuals affected by schizophrenia compared to unaffected individuals, and similar observations have been made in autism and bipolar disorder. However, he said, it is usually not readily evident which individual CNV events are pathogenic.

“Many rare events are seen in the general population, and the excess in cases is relatively modest and individual events are too rare to demonstrate definitive association in realistically sized patient collections. Hence, it is challenging to translate these rare CNV events into a clear understanding of disease pathology,” said the professor.

The study was published in the journal PLoS Genetics.



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