Wednesday 14th May 2025 10:39 am

We are excited to announce that NCIG has launched a suite of culturally safe and appropriate genomic resources our collaborator Associate Professor Azure Hermes has led development of since 2023.

These resources include storytelling through animations, plain language definitions, interviews with genetic counsellors, a map of genetic services nationally and other materials that reflect community voice, values and knowledge, and are designed to better support the First Nations rare disease community, empowering families with the information they need to make informed decisions about their healthcare.

NCIG worked closely with community organisations across Australia throughout the project - Building Knowledge of Genomics in Partnership – which comprised three key stages: listening, co-designing and sharing.

“ Early collaborative workshops laid the foundation for the project, creating space for communities, researchers, health workers and creative teams to come together and begin the co-design process. These early conversations highlighted the need for clear and timely information, the value of visual storytelling, and the importance of moving beyond just pamphlets and posters.”

While these resources have been developed for Aboriginal and Torres Strait Islander people, they will also be useful for genetic health service staff and the wider Australian community, so please forward these to your networks as appropriate.

This ambitious program wouldn't have been possible without the invaluable support of the below community partners.

  • Gurriny Yealamucka Health Service, Yarrabah

  • Yalu Aboriginal Corporation in Galiwin’ku

  • A genomic advisory group from the Tiwi Islands

  • The Victorian Aboriginal Community Controlled Health Organisation (VACCHO) and

  • The Machado Joseph Disease Foundation based, Groote Eylandt

New Publication

Tuesday 3rd December 2024 12:09 pm

The UDN-Aus Health Economics team, led by PhD student Francisco Santos Gonzalez has published A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders’ in the Orphanet Journal of Rare Diseases.

This study presents a framework for micro-costing genomics and evaluates the cost-effectiveness of proteomics diagnostic tests for mitochondrial and other rare diseases in Australia. The findings indicate that proteomics tests are less invasive, highly specific, and cost-effective compared to the current NATA-accredited functional test for mitochondrial disorders. Additionally, the study estimates costs based on the eligible patient population and identifies opportunities for cost savings as the technology advances. The findings have implications for the economic evaluation and the establishment of reimbursement pathways for using proteomics in rare disease diagnosis.

Santos Gonzalez F, Hock DH, Thorburn DR, Mordaunt D, Williamson NA, Ang CS, Stroud DA, Christodoulou J, Goranitis I. A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders. Orphanet J Rare Dis. 2024 Nov 29;19(1):443. doi: 10.1186/s13023-024-03462-w. PMID: 39609890; PMCID: PMC11605922.

UDN-Aus Investigators Meeting at the 2023 ICG

Thursday 29 June: 1:02 pm

The 2023 Human Genetics Society of Australasia’s Annual Scientific Meeting will this year be co-hosted with the XXIIIrd International Congress of Genetics in Melbourne, Australia from 16-21 July 2023, in what promises to be a landmark event.

This five-yearly conference returns to Australia after 20 years under the theme “Linking Life & Society” and covers “the breadth of fundamental discoveries in genetics and genomics, the latest advances in technologies, and important and topical applications in areas such as health, agriculture and the conversation of species and the environment.”

UDN-Aus are pleased to be holding our Investigators Meeting in person for the first time at the event, Thursday 29 July at 5pm with food and drink provided.

Investigators for the project are invited to join one another in celebration of the goliath conference and the progress of UDN-Aus. The UDN-Aus team have confirmed with ICG organisers that UDN-Aus investigators are able to attend the meeting, regardless of if you are registered for the ICG. Any investigators in Melbourne July 19 are welcome to attend the Investigators Meeting. Contact udn.aus@mcri.edu.au if you have not received an invitation. Confirming your attendance is crucial!

Please note this event will be in person only.

April 29 is Undiagnosed Day

Thursday 27 April: 9:49 am

Undiagnosed Diseases Network International (UDNI) and the Wilhelm Foundation partner on Saturday 29 April for Undiagnosed Day “A celebration to all living with an Undiagnosed Disease and their loved ones and in memory of the ones lost”.

The Undiagnosed Day 2023 official awareness webinar with be available at https://www.undiagnosed-day.org/ on Saturday 29 April at 11:30 UTC (7:30pm AWST/9pm ACST/9:30pm AEST). The 2022 webinar recording is available on Youtube here.

Engage with Undiagnosed Day on social media with the tags #UndiagnosedDay #UndiagnosedDay2023 #DiagnosticHackathon2023