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