Rare Disease Project ECHO®

The Rare Disease Project ECHO® Clinical Community of Learning Practice is a continuing professional development activity delivered via interactive webinars. The ‘hub-and-spoke’ outreach model connects health providers (‘spokes’) to a multidisciplinary team with expertise in rare disease (‘hub’).

The webinars start with a presentation on a specific topic from an expert. This is followed by reflective discussion, which all participants are encouraged to join.

The sessions are held online via Zoom on a Thursday evening once a month.

DateTimeTopicLink
19 Sept 20247pm Sydney
7pm Brisbane
6:30pm Adelaide
5pm Perth
Mental health and wellbeinghttps://echo.zoom.us/j/89207845349
17 Oct 20247pm Sydney
6pm Brisbane
6:30pm Adelaide
4pm Perth
Achieving early diagnosishttps://echo.zoom.us/j/89771956429
7 Nov 20247pm Sydney
6pm Brisbane
6:30pm Adelaide
4pm Perth
Innovative clinical trials access modelshttps://echo.zoom.us/j/89775115783
5 Dec 20247pm Sydney
6pm Brisbane
6:30pm Adelaide
4pm Perth
Clinical yarninghttps://echo.zoom.us/j/89031678376

Rare Disease Project ECHO® is a collaboration between Rare Voices Australia, UNSW Sydney, Rare Diseases NSW, and the Rare Care Centre, 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 Logo

Rare Disease Project ECHO® is an RACGP-approved CPD activity. However, the sessions are valuable for all health professionals. 


The session summaries from previous series held in 2022 and 2023, and recordings of the introductory talks from experts in the first series, are available below.

Series 1 (2022-2023)

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

Presenter: Nicole Millis, Chief Executive Officer, RVA

Resources: Session Recording | Session Summary (PDF) | Family GENES (PDF)


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

Presenter: Louise Healy, Education and Advocacy Manager, RVA

Resources: Session Recording | Session Summary (PDF)


Session 3: Communication About Rare Diseases

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

Resources: Session Recording | Session Summary (PDF)


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.

Resources: Session Recording | Session Summary (PDF)


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

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

Resources: Session Recording | Session Summary (PDF)


Session 6: Whole of Life Care

Presenter: Rare Care Centre, Perth Children’s Hospital

Resources: Session Recording | Session Summary (PDF)


Session 7: Partnering with Patient Advocacy Groups

Presenter: Louise Healy, Education and Advocacy Manager, RVA

Resources: Session Recording | Session Summary (PDF)


Session 8: Rare Disease Research

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

Resources: Session Summary (PDF)


Series 2 (2023)

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
Resources: Session Summary (PDF)

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
Resources: Session Summary (PDF)


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

Presenter: Rebecca Saad, nurse consultant at Sydney Children’s Hospitals Network
Resources: Session Summary (PDF)


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
Resources: Session Summary (PDF)


Session 5: Innovative approaches to rare disease prevention and care

Presenter: Libby Massey, Director, Research, Clinical Services and Education at MJD Foundation
Resources: Session Summary (PDF)

Please email the RArEST Project team with any queries you may have about Rare Disease Project ECHO® or the RArEST Project: [email protected]