Phenomics Australia – Enabling Genomic Medicine

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“For over ten years, Phenomics Australia, formerly the Australian Phenomics Network (APN), has been providing Australia’s leading universities and medical research institutes with top infrastructure and animal models for vital biomedical research. Thanks to the ongoing support of this national joint venture, Phenomics Australia has been ‘Enabling Genomic Knowledge and Technology to allow Australians to live longer and better.”

~ Rhyannah Hamer

Phenomics Australia was founded in 2007 through the support of the Australian Commonwealth Government’s National Collaborative Research Infrastructure Strategy (NCRIS).

The network provides world-class services and expertise to hundreds of researchers for biomedical research. Phenomics Australia is renowned specifically for their production of high-quality mice models for disease modelling, which has allowed for a deeper understanding of diseases, development of targeted therapies and the development of new diagnostics that allow for the delivery of precision medicine.

Phenomics Australia is a national system comprised of eight of Australia’s top universities and medical research institutes. The network provides infrastructure on a national scale that is crucial for the study of gene function and, more recently, applying this understanding of Genomic Medicine to the diagnosis, understanding and treatment of disease.

As well as their high quality mice models, Phenomics Australia also provides cell-based Functional Genomics assays to contribute to the understanding of the genetic basis of human disease and developing new therapeutics to combat such disease.

Phenomics Australia provides the means for the characterisation of the phenotype and genotype of diseases, as well as a platform for the curation and sharing of scientific data. Hundreds of researchers on a national, and now even an international scale, have utilised Phenomics Australia for their biomedical research. More researchers in the two years of 2017-2018 alone have utilised a service provided by Phenomics Australia than from 2006-2011.

‘The phenomics approach seeks to help clinicians to discover gene function, to determine the genetic causes of disease, and to deliver more tailored medicine for individuals.’

Thanks to the extensive and growing provision of biomedical research infrastructure, Phenomics Australia has had a direct impact in supporting the understanding of serious diseases in patients. In October last year, researchers at the ANU utilised Phenomics Australia capabilities to successfully describe a new syndrome in two families with a previously undiagnosed immune deficiency.

The researchers used a mouse model and CRISPR/Cas9 gene editing tools provided by Phenomics Australia to characterise the syndrome. The research was published in the Journal of Experimental Medicine. Such advancements may allow for the diagnosis of other patients with this new syndrome, or for the potential development of a treatment. This reflects the impact of research conducted through the infrastructure provided by Phenomics Australia.

For over 10 years, Phenomics Australia has developed into a strong joint venture that has provided hundreds of researchers with the means to carry out vital biomedical research. The network continues to involve itself with major development set by the government to consistently provide researchers with cutting-edge technology.

Recently, the Medical Research Future Fund has been established for the support of health and medical research, investing a total of $20 billion. With support from such emerging developments, Phenomics Australia plans on continuing providing the highest quality infrastructure to fulfil their vision of enabling genomic knowledge and technology to allow Australians to live longer and better.

References:

Australian National University 2018, ANU researchers find new disease, https://www.anu.edu.au/news/all-news/anu-researchers-find-new-disease, accessed 15 April 2019

Brown, S. 2019, APN 5-Year Strategy 2019-2023 2023 Vision Consultation Draft, accessed 9 April 2019

Brown, S. 2019, 2019-2020 Business and Operational Plan Consultation Draft, accessed 9 April 2019

Cardinez, C. et al. 2018, Gain-of-function IKBKB mutation causes human combined immune deficiency, Journal of Experimental Medicine, 215(11), pp. 2715-2724

The Australian Phenomics Network 2019, The Australian Phenomics Network, http://australianphenomics.org.au/, accessed 9 April 2019

Phenomics Australia Feedback Form

Phenomics Australia (formerly the Australian Phenomics Network, APN) offers consolidated infrastructure and expertise supporting genomic medicine and biomedical research from discovery through into early clinical development and evaluation.

Phenomics Australia is a founding capability enabled by the National Collaborative Research Infrastructure Strategy (NCRIS). We would love to hear from you!

Please feel free to provide any ideas or general comments you might have so that we can further improve how Phenomics Australia can support you.

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