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. 

Funding

Project Team

Principle Investigator
Dr Jane Desborough (NCEPH)
Other Team Members
Professor Christine Phillips (ANU School of Medicine and Psychology)
Professor Matthew Cook (John Curtin School of Medical Research)
Dr Anne Parkinson (NCEPH)
Ms Carolyn Dews (Immune Deficiencies Foundation Australia)
Ms Anita Chalmers OAM (Myositis Australia Association Inc.)
Ms Christine Lowe (Myositis Australia Association Inc.)
Ms Dianne Gregory (Sarcoidosis Lyme Australia)
Ms Elaine Kelly (Sarcoidosis Lyme Australia)
Ms Tergel Namsrai (NCEPH)

Governance

The Missed Opportunities research project is overseen by a Steering Committee comprised of:

• Professor Matthew Cook (John Curtin School of Medical Research)
• Ms Falak Helwani (Rare Voices Australia)
• Associate Professor Katrina Anderson (ANU School of Medicine and Psychology)
• Professor Cathy Banwell (NCEPH)
• Ms Lisa Clements (ACT Health)