UDN-Aus recruitment closed in July 2025, following 36 months of enrolment across our participating sites. We are now focused on reanalysing the genomic data and finalising functional or multi-omic testing for every enrolled participant and returning results to families through their Clinical Geneticist.

As of September 2026

Results

• All 163 enrolled families have had initial genomic analysis and case review at an MDT meeting

• 64 families have progressed to functional or omic testing to help resolve an uncertain genetic variant finding

• Gene changes have been identified for 46 families that are considered by the MDT to be causative of a rare disease

Research contributions

• Collaboration with 32 national and international research partners to pursue further investigation of uncertain genetic variants

• Publication of 8 peer reviewed articles including:

  • Santos Gonzalez, F., Hock, D. H., Thorburn, D. R., Mordaunt, D., Williamson, N. A., Ang, C. S., Stroud, D. A., Christodoulou, J., & Goranitis, I. (2024). A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders. Orphanet journal of rare diseases, 19(1), 443. https://doi.org/10.1186/s13023-024-03462-w

  • Santos Gonzalez, F., Martin, E., Harris, M., Casauria, S., Udn-Aus, T. A. U. D. N., Christodoulou, J., & Goranitis, I. (2026). The value of functional genomics: a contingent valuation. Expert review of pharmacoeconomics & outcomes research, 26(2), 195–202. https://doi.org/10.1080/14737167.2025.2605152

• 20 conference presentations: