Rare Disease Project ECHO®

Coordinating Care When Systems Fail: Your Roadmap for Rare Disease Management

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From Crisis to Confidence: Rebuilding Trust with Rare Disease Families After Medical Trauma

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Unlocking Tomorrow’s Treatments Today: Navigating Clinical Trials and new Therapies for Your Rare Disease Patients

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Whole-Person Care: Practical Mental Health Tools for Rare Disease Patients and Families

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Session Summary (PDF)

Two-Way Learning: Integrating Cultural and Clinical Expertise in Rare Disease Care

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Rare Disease Project ECHO® is a collaboration between Rare Diseases NSW and Rare Voices Australia, bringing together clinical, research and lived experience expertise.

Joining the Rare Disease Project ECHO® community can have many benefits, including:

Establishing referral pathways across Australia to reach rare disease subject matter experts
Supporting with the diagnosis and management of rare diseases
Introducing resources for health professionals and their patients
Connection to a multidisciplinary network of like-minded health professionals

RACGP-Approved

Rare Disease Project ECHO® is an Royal Australian College of General Practitioners approved Continuing Professional Development activity.

However, the sessions are valuable for all health professionals.

Previous Rare Disease Project ECHO® Series

The session summaries from previous series held in 2022-2024, and recordings of the introductory talks from experts in the first series, are available below.

Session 1: Rare Disease Facts and Figures and the Importance of Lived Experience

Presenter: Nicole Millis, Chief Executive Officer, Rare Voices Australia

Session Recording | Session Summary | Family GENES

Session 2: Mental Health and Wellbeing – Unique Needs and Resources Pathways

Presenter: Louise Healy, Education and Advocacy Manager, RVA

Session 3: Communication About Rare Diseases

Presenter: Stephanie Broley, Genetic Counsellor, Rare Care Centre, Perth Children’s Hospital

Session 4: Diagnostic Odyssey – Tools for Diagnosis and Referral Pathways

Presenters: Professor Gareth Baynam, Clinical Geneticist, Rare Care Centre, Perth Children’s Hospital and Dr Emma Palmer, Clinical Geneticist, Sydney Children’s Hospital.

Session 5: Genomics – Carrier Screening, Prenatal Testing, Direct to Consumer Genetic Testing

Presenter: Dr Emma Palmer, Clinical Geneticist, Sydney Children’s Hospitals Network

Session 6: Whole of Life Care

Presenter: Rare Care Centre, Perth Children’s Hospital

Session 7: Partnering with Patient Advocacy Groups

Presenter: Louise Healy, Education and Advocacy Manager, RVA

Session 8: Rare Disease Research

Presenter: Dr Falak Helwani, Research and Evaluation Manager, RVA

Session 1: Supporting patients before, during, and after a rare disease diagnosis

Presenters: Michele Hemmings, Patient Pathways Telehealth Nurse, and Clare Stuart, Policy and Advocacy Manager, RVA Partner Mito Foundation

Session 2: Rare disease patient communication and empowerment

Presenter: Dr Manjekah Dunn, Junior Doctor, Sydney Children’s Hospitals Network and researcher in the GeneEQUAL team

Session 3: Supporting the whole family of people living with a rare disease

Presenter: Rebecca Saad, nurse consultant at Sydney Children’s Hospitals Network

Session 4: Coordinating and connecting care for people living with a rare disease

Presenters: Christian Meagher, a researcher from the Brain Aid team at the University of New South Wales (UNSW) and Michelle Farrar, Professor of Paediatric Neurology at UNSW Sydney

Session 5: Innovative approaches to rare disease prevention and care

Presenter: Libby Massey, Director, Research, Clinical Services and Education at MJD Foundation

Session 1: Mental Health and Wellbeing

Presenter: Louise Healy, Education and Advocacy Manager, Rare Voices Australia

Session 2: Achieving Early Diagnosis

Presenters: Dr Emma Weisz, a paediatrician and Senior Project Clinician at Melbourne Genomics Health Alliance, and Erin Crellin, PhD candidate at Melbourne Genomics Health Alliance, University of Melbourne and Murdoch Children’s Research Institute

Session 3: Innovative Clinical Trials Access Models

Presenter: Professor David Coman, a clinical geneticist, metabolic physician and consultant paediatrician

Session 4: Clinical Yarning

Presenter: Dr Yarlalu Thomas, a Nyangumarta Pitjikarli man, medical doctor and co-founder of Lyfe Languages