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Co-author of the study researcher Professor Ingrid Scheffer based at the University of Melbourne, The Florey Institute of Neuroscience & Mental Health and Austin Hospital said the findings would contribute significantly to developing new targeted therapies for autism spectrum disorders, intellectual disability and developmental delay.
“Using integration of different gene discovery techniques, we are getting closer to identifying the fundamental cause of these conditions,” she said. “This is the first study to use such a large data set of almost 30,000 affected children, with this integrative approach to gene discovery to produce a more effective way to find genes,” she said.
“It is the best way to understand the cause of these conditions and is the building block to finding new targeted therapies,” Professor Scheffer said.
The research was led by the Eichler group in Seattle who collaborated with Victorian researchers at the University of Melbourne, Barwon Health and The Florey Institute of Neuroscience and Mental Health. Other collaborators included the Murdoch Childrens Research Institute and The Royal Children’s Hospital.