Many rare diseases present a complex array of symptoms that often mirror more common conditions, and therefore present diagnostic dilemmas for first-contact clinicians. People with rare diseases often experience long delays from the onset of symptoms to diagnosis. We aim to develop resources to highlight points in a patient’s journey when a clinician may re-evaluate existing diagnoses to consider rare diseases. 

We focus on three rare diseases - myositis, primary immune deficiency and sarcoidosis. Our research partners include the Myositis Association Australia Inc., Immune Deficiency Foundation Australia, and Sarcoidosis Lyme Australia.

The clinical resources will be tailored for later-year medical students and early-career clinicians, and will include interactive case studies and filmed examples of consultations.

Learning resources for students, clinicians and medical educators

In collaboration with rare diseases organisations and clinicians, free-to-use learning resources have been developed with a focus on the journey to diagnosis of a rare disease and the consultation skills that support developing a diagnosis. Access the resources here.