Health Care Professionals Education and Training

Rare Diseases NSW is dedicated to advancing the knowledge and capacity of healthcare professionals to deliver high-quality, integrated care for individuals living with rare diseases. With strong connections to educational and community organisations, we strive to be leaders in comprehensive rare disease care.

Many of the resources featured on this page were developed as part of RArEST (Rare Disease Awareness, Education, Support, and Training), a three-year federally funded, cross-sectoral initiative. Rare Diseases NSW led the Clinical Education stream, collaborating with people with lived experience and interdisciplinary health professionals to co-create these disease-agnostic tools. In addition to RArEST materials, this page offers a variety of valuable resources to support healthcare professionals in their work caring for people living with rare diseases.

Rare Disease Project ECHO

Emerging from the RArEST Project, the Rare Disease Project ECHO Community of Clinical Learning Practice runs semi-regular series of online meetings that involve case-presentations and meaningful discussion. Summaries of these meetings are posted on the Rare Voices Australia website.

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Rare Disease 101 Australia

This nine-lesson online module is free to take. Co-designed as part of the RArEST project and intended for all health care professionals, it aims to introduce the key considerations for providing high-quality care for people living with rare disease.

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Advanced therapies handbook

A comprehensive resource designed to help parents and carers understand advanced therapies used for treating rare conditions. Developed in collaboration with the SCHN Kids Advanced Therapeutics program, Neurology Departments, and the BrainAid project, the handbook features educational videos, checklists, FAQs, and curated resources. It covers therapies such as cell therapy, gene therapy, neuro-immunotherapy, phage therapy, and deep brain stimulation, offering accessible information and practical guidance. The resource empowers families with knowledge and encourages informed discussions with healthcare providers.

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National Recommendations for Rare Disease Health Care

The Recommendations were developed through a multi-stakeholder collaboration as part of the RArEST Project. They aim to help health professionals provide quality care for people living with rare disease, including people with a diagnosed rare disease and those who have not yet received a diagnosis.

The website for the Recommendations includes full and summarised PDFs as well as a navigable online version. You can also download the Recommendations as a printable infographic

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GeneEQUAL

The inclusive GeneEQUAL program is a collaboration between the Disability Innovation Institute, UNSW Medicine and Health and UNSW Art, Design and Architecture.

This project aims to develop a world-leading inclusive, person-centred and respectful genetic model of care for people with intellectual disability, and to co-produce point-of-care resources and education for healthcare professionals such as the NSW Health Centre for Genetics Education GeneEQUAL Toolkit. We have attracted funding from NSW Health and the National Health and Medical Research Centre.

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Practical Medical Genomics

This 40-hour course, a collaboration between UNSW Medicine and Health, UNSW Science, and the Garvan Institute, equips healthcare and science professionals with practical skills to integrate genomics into clinical practice.

Delivered over 8 weeks, the program aligns with medical college and professional society guidelines. It covers genomic medicine, genetic counselling, and precision medicine. Participants will learn to identify when to consider testing, interpret results, and create patient-centred care plans.

The course provides 3 Executive Certificate in Health (FMECH) points, which can contribute to further study towards a UNSW Medicine & Health postgraduate program.

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Mental Health Case Studies

As part of the RArEST Project, Rare Voices Australia led the development of this series of animated case studies that effectively communicate the mental health and wellbeing challenges faced by many people living with rare disease. These short videos can help clinicians understand the rare disease journey and learn directly from people with lived experience about the type of support they find useful.

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Additional links

RARE Portal

The Rare Awareness Rare Education (RARE) Portal is your “one-stop shop” for Australian Rare Disease Resources. Designed for the rare disease community and for health professionals, the portal contains co-designed information and resources on an extensive (and growing) list of rare diseases.

Centre for Genetics Education

A division of the NSW Health Education & Training Institute, the CGE aims to promote the responsible and effective integration of genetic technologies into healthcare and public policy. It serves as a hub for healthcare professionals, educators, and the general public, offering up-to-date information and guidelines on genetic testing, counselling, and the ethical considerations involved.

Australian Alliance for Rare Diseases (AARD)

The Australian Alliance for Rare Diseases (AARD) is a network of diverse partners taking national leadership in rare disease research, education, and training.

Working in partnership with those with lived experience and other organisations, AARD seeks to fill the current gaps in national coordination and infrastructure for rare diseases, while also leveraging national and international collaborations.