Researchers from the Queensland Centre for Mental Health Research (QCMHR) have secured $2.5 million via the 2021 NHMRC Ideas Grants scheme to develop the world’s first genomic reference dataset for Indigenous Oceanic people.

With population genetics now the foundation for precision medicine, genomic reference datasets can be used to improve diagnosis of rare diseases and to predict risk of disease, including for mental disorders like schizophrenia.

Dr Sathish Periyasamy, who is funded by QCMHR and based at UQ’s Queensland Brain Institute (QBI), said the five-year project will correct an imbalance in Indigenous representation in global genomic databases and improve the accuracy of future genetic studies.

“The Oceanic region – spanning Australia, the Torres Strait Islands, Polynesia, Melanesia and Micronesia – is home to some of the world’s oldest continuous and most diverse range of Indigenous cultures on earth and yet these populations are the least represented in genetic studies,” Dr Periyasamy said.

“Genomic data from Australian Indigenous people has been missing from global population genetics datasets, which are largely drawn from European populations.

“By gathering representative genetic information from Indigenous Oceanic populations, we will contribute world-first genomic data to global population genetics databases and create new understanding of disease in Indigenous populations.”

Data gathered from this study will be used to compile a population-specific reference dataset and a range of advanced scientific resources that will underpin genetic disease studies in Oceanic and Australian Indigenous populations in the future.

These resources will include Australia’s first imputation server, the generation of a large Indigenous dataset to underpin genetic studies based on whole Genome sequencing, a Single Nucleotide Variant array – which is a useful tool for studying slight variations between whole genomes, and a catalogue of clinically relevant genetic variants for the Indigenous population, which will underpin future disease predictive and diagnostic tools.

Dr Periyasamy said the work would make Australia one of only four places in the world to host an imputation server, and the only one to host the Indigenous Oceanic reference dataset.

This project will significantly improve research productivity by reducing the cost and time required to generate and compare genetic data.

“Ultimately, this work will be good news for researchers, good news for medical practitioners and good news for patients who will benefit from an improved ability to identify genetic risk variants in the Indigenous population, and an improved ability to create predictive and diagnostic tools for genetic screening of Indigenous individuals with a high risk of developing various diseases.”

Members of the research team include Professor Bryan Mowry, Dr Rachel Suetani and Andrea Baker from QCMHR, and Dr Qiongyi Zhao from QBI.

Contact: Laura Corcoran, l.corcoran@uq.edu.au, 0414 504 508.

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