Developing best practice rare disease diagnostic care models in a real-world rural/regional setting
Lauren S. Akesson, Sanjoti Parekh, Andrew Alderdice, Hannah Jackson, Lynda Bain, Alice Dudgeon, Linda J Williamson, Brianna L Akesson, Genevieve Say, Miranda J Kellett, Rachel Pope-Couston, Mathew Wallis
The paper identifies challenges in rare disease diagnosis in Tasmania through stakeholder consultations and suggests establishing a Rare Care Centre to improve care.
medRxiv · Jul 24, 2025 · PreprintGenetic & Genomic Medicine