A GLOBAL research group including Irish scientists has discovered a cluster of genes linked to the mental disorder autism.
Ireland played a key role, preparing and delivering a large part of the data and later analysis that helped to find the genes. The research took place under the Global Autism Genome Project. It involves the work of 120 scientists from more than 50 institutions in 19 countries.
Prof Michael Gill and Dr Louise Gallagher of Trinity College Dublin and Prof Andrew Green and Dr Seán Ennis of University College Dublin were among the Irish participants, serving as co-lead investigators in the project.
"This is what the smart economy is all about," Prof Gill said yesterday evening as the research was published by the prestigious journal Nature.
“The Irish contribution, what we were able to produce, was noted as being absolutely excellent,” he said.
“This is a TCD/UCD alliance.”
Either institution on its own could not have made that level of contribution to the international project, he added. “We are very pleased with it.”
The international group used advanced technology to look for genetic variations between a group of 1,000 people with autism and a control sample of 1,300 people without the condition.
They were looking for small sections of DNA that can occur either more often or less often in the genome, which are called copy number variants.
Prof Gill said those with or without autism had a similar total number of variants, but in those with autism, the variants occurred more often around certain developmental genes that were important for proper brain activity.
Studying these copy number variants helped the consortium to confirm the link between the disorder and a collection of known and suspected autism genes. More importantly, they identified four wholly new autism susceptibility genes.
“It is not a seachange in understanding, it is a step,” Prof Gill said. He likened it to adding a few more jigsaw pieces to the understanding of autism puzzle.
It also pointed the way towards possible new treatments, he added. “With further research work, these and other recent findings have very real potential to lead to the development of novel interventions and treatments for these disorders.”
The work here could not have taken place without funding put in place by the Health Research Board. It contributed $6 million (€5 million) of the $16 million needed to support the consortium.
“The results show that Irish researchers and Ireland can truly contribute to scientific discovery on the global stage,” Dr Ennis of UCD said.
Prof Gill added: “We have the technology, we have the education, but it requires the funding,”
The autism project has already produced a second data- set ready for analysis from a new group of 1,000 people with the condition and a similar number of controls.