Australian Genomics | Non-profit organisation

Australian Genomics

Phone: +61 3 9936 6345

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19.01.2022 Last week we held a special webinar event to mark the first five years of Australian Genomics. The event showcased research from across our network and featured a panel discussion with some of our remarkable clinicians, researchers and patient advocates. Thank you again to all those who joined us for this special event. If you missed it, or would like to watch it again, the full recording is now available!

18.01.2022 Declan loves rugby union and surfing. When his legs started to fail him, he and his family went through a difficult journey of hospital visits and countless tests in search of answers. While at first tests suggested Declan has an unknown leukodystrophy, genomic analysis through our leukodystrophy flagship helped piece together that Declan actually has a very rare genetic condition called VPS13D Spinocerebellar Ataxia. A confirmed diagnosis has given Declan a path forward in... managing his condition so he can focus more on doing what he loves. Thank you Declan for sharing your story with us. His story is available here: https://youtu.be/-kwD79FDZ_w Thank you to everyone who contributed to and joined us for our webinar event today, ‘Australian Genomics: the first five years’. A recording of the event will be made available soon, so please stay tuned!

17.01.2022 We recently launched a tool named Variant Atlas, originally developed by our partners at the Garvan Institute of Medical Research and adapted for Australian Genomics. The tool works by bringing together anonymised, summary-level genomic and clinical information from our studies in areas like epileptic encephalopathies and mitochondrial disorders. The data are then visualised across the human genome, allowing researchers to easily and quickly explore complex genetic data, homi...ng in on different regions, genes or DNA changes. By studying these data, researchers hope to make new discoveries in rare genetic conditions and in cancers. Our Data Program Manager MJ Brion from QIMR Berghofer Medical Research Institute is part of our webinar panel this Friday. Hear from MJ on some of the innovative data tools & solutions to solve complex challenges in genomics. Read more on Variant Atlas at: https://www.australiangenomics.org.au/variant-atlas-live More on our webinar panel: https://www.australiangenomics.org.au/australian-genomics-/

09.01.2022 While genomic technology has been revolutionary in finding more answers in our genes, we still have more to learn about what impact certain genes and gene changes have on the body. Our Cardiac Genetic Disorders flagship is forging an approach which brings clinical care and research much closer together, to find more answers for families with genetic heart conditions. The Flagship will over the coming years, enable genomic testing for six hundred families. If at first an ans...wer cannot not be found through testing, the study has a significant ‘functional’ research component, where laboratory scientists are in a form of detective work, working to discover new genes, or reveal the function of a gene or genetic change that could be responsible for a heart condition. It is through this comprehensive care and discovery model the study hopes to shape a new best practice approach to cardiac genetic testing in Australia.

05.01.2022 Genomics has a huge role to play in the future of cancer care. The Cancer Flagships across our network are using genomic technology to improve diagnostic approaches, better understand the role of genes and cancer risk, and to identify genetic changes in cancer that could be treated with targeted therapies. For some cancers, genomic sequencing is already providing meaningful information to guide care. ... More on the work of our Cancer Flagships at https://www.australiangenomics.org.au/cancer and our webinar event on Friday 4th December 10am-12noon AEDT. Registration is still available! https://australian-genomics.eventbrite.com.au