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Do genetic mutations in individual brain cells influence how people form memories? Are diseases such as schizophrenia and Alzheimer’s caused by these genetic mutations?
A Mater Research Institute-University of Queensland (MRI-UQ) researcher’s drive to answer these questions has earned him a prestigious Australian Academy of Science award.
Dr Geoffrey Faulkner has been awarded the 2016 Ruth Stephens Gani Medal for his work, which could underpin future treatments for devastating brain disorders such as Alzheimer’s disease and schizophrenia.
The neurogenomics researcher said he was honoured to receive the award and hoped his work would improve understanding of how the brain functions.
“Our work is intended to better explain how the brain works by analysing the complete set of genes – the genome – present within individual brain cells,” Dr Faulkner said.
“We’re also looking at diseases where memory fails, with a focus on dementia in particular.”
Dr Faulkner said his research had found that those parts of the genome most important for brain function were the most likely to carry mutations.
“Because of recent technical breakthroughs, it’s now possible to sequence the genomes of individual cells,” he said.
“By locating where mutations are taking place in the genome, we are building a better understanding of how they may make cells function differently.
“We now know that each neuron (nerve cell in the brain) has a unique genome that is slightly different to every other cell in the same person’s brain.
“Our experiments suggest that the frequency and pattern of mutations are very different in the brains of schizophrenia and Alzheimer’s disease patients, compared to healthy individuals.
“The brain is an incredibly complicated organ and the most complex puzzle you could ever imagine.
“I’m driven to solve this puzzle and better explain why patients develop neurological disease, and that’s why I do this research,” he said.
The Australian Academy of Science’s Ruth Stephens Gani Medal recognises research in human genetics and honours the contributions to science in human cytogenetics by the late Ruth Stephens Gani (1927-1997).
MRI-UQ is an alliance between Mater Research and The University of Queensland, two leading institutions working together to achieve the best possible research discoveries in health and medicine.