Category: RVA News

Between 14–18 August 2025, Rare Voices Australia (RVA) attended the 48th Annual Scientific Meeting of the Human Genetics Society of Australasia (HGSA) in Sydney. Genetic Ecosystems was this year’s theme.

RVA congratulates the HGSA leadership team and local organising committee for delivering a person-centred meeting, which opened with and continually highlighted the powerful voices of those with lived experience of rare disease.

We especially acknowledge the courage of our RVA Partners—Giovi Moschoudis, Founder and Chief Executive Officer of the Angelina Cask Neurological Research Foundation, and Mel Anderson, Director and Chair of Research Governance at PURA Foundation Australia—who shared deeply moving personal stories about the realities of living with a rare disease.

It was a privilege to witness Dr (Elizabeth) Emma Palmer, a member of RVA’s Scientific and Medical Advisory Committee (SMAC), deliver the 20th Sutherland Lecture, reflecting on her impressive career and impact. We congratulate Emma on this well-deserved honour and thank her for her ongoing work supporting Australians living with a rare disease. RVA also congratulates SMAC members Dr Paul Lacaze, who presented on DNA Screen, and Dr Jane Tiller, who shared updates on efforts to legislate a ban on genetic discrimination in life insurance underwriting.

The HGSA Annual Scientific Meeting and Special Interest Group sessions brought together high-calibre speakers from Australia, New Zealand, the United States and Asia. Key themes included:

• The rapidly evolving landscape of newborn screening, with equity, trust and consistency as central priorities.
• The expanding role of genomics in newborn screening and health, and the opportunities and challenges this presents.
• The need to understand and address the diverse perspectives and needs of patients, families and communities.
• The ethical, legal and social dimensions of integrating genomics into health systems.
• The demonstrated value of undiagnosed disease programs for Australians.
• The importance of carefully crafted policies to support safe and equitable implementation of genomics.
• The emerging role of artificial intelligence in genomics and health.

The HGSA Annual Scientific Meeting highlighted both the extraordinary progress being made in genetics and genomics, and the importance of ensuring these advances are translated into care that is equitable, ethical and informed by lived experience.

The Kids Research Institute Australia (formerly the Telethon Kids Institute) and Rare Voices Australia (RVA) have published Australia’s Top 10 Rare Disease Research Priorities. The report presents the outcomes of the Rare Disease Research Priority Setting Partnership project, which adopted a modified James Lind Alliance research approach. The aim of this work was to establish Australia’s Top 10 Rare Disease Research Priorities based on what matters most to people living with a rare disease, including their parents, carers, health professionals, and other rare disease community representatives.

Guided by RVA’s Scientific and Medical Advisory Committee, this project aimed to progress Priority 3.2 of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), “Develop a national research strategy for rare diseases to foster, support and drive all types of research for rare diseases, contributing to agreed priorities and systematically addressing gaps”. The Action Plan is the first nationally coordinated effort to improve health and wellbeing outcomes for Australians living with a rare disease.

Why This Work Matters

Australia’s Top 10 Rare Disease Research Priorities provide an important foundation to inform and guide future rare disease research efforts. Progress across the Top 10 priorities will assist in the ongoing collaborative implementation of the Action Plan.

The Top 10 priorities present a timely opportunity to attract greater attention and investment from health and medical research funders, research institutions, policymakers and industry. They are a valuable resource for all rare disease stakeholders, including researchers, clinicians, health service planners, advocacy organisations and government.

Acknowledgements

Thank you to the rare disease community for your genuine interest in this work and to all who dedicated their time to participate and contribute. RVA would also like to acknowledge the Project Steering Committee and Project Advisory Group whose collective expertise, guidance and professional networks were key to the success of the project. 

Official Launch of Australia’s Top 10 Rare Disease Research Priorities

The first meeting for the new Australian Rare Disease Research Network (ARDRN) will take place on 18 September 2025 between 1pm and 2pm AEST. The ARDRN will be facilitated and chaired by RVA and SMAC members, Clin/Prof Gareth Baynam, Dr (Elizabeth) Emma Palmer and Dr Lisa Ewans. The virtual event will also mark the official launch of Australia’s Top 10 Rare Disease Research Priorities report. A discussion will be facilitated about the Top 10 priorities and the next possible best steps in terms of their implementation. All researchers are welcome to join the ARDRN. Learn more about the ARDRN and register via this web page.

Downloads

Download Australia’s Top 10 Rare Disease Research Priorities Report

Download Australia’s Top 10 Rare Disease Research Priorities

Rare Voices Australia (RVA) is facilitating the first meeting for the new Australian Rare Disease Research Network (ARDRN) on 18 September 2025 between 1pm and 2pm AEST. The virtual event will also mark the official launch of Australia’s Top 10 Rare Disease Research Priorities report. RVA will facilitate a discussion about the Top 10 priorities and the next possible best steps in terms of their implementation.

As the national peak body for Australians living with a rare disease, RVA engages with all rare disease stakeholders, including researchers. RVA already engages with Australian rare disease researchers through our Scientific and Medical Advisory Committee (SMAC) and RVA’s Research Partnerships Program.

Eligibility and Aims of the Australian Rare Disease Research Network

Facilitated and chaired by RVA and SMAC members, Clin/Prof Gareth Baynam, Dr (Elizabeth) Emma Palmer and Dr Lisa Ewans, the ARDRN aims to broaden RVA’s reach, bringing together a community of rare disease researchers across Australia. The ARDRN offers rare disease researchers a platform to connect and stay informed about the changing rare disease policy landscape, RVA’s advocacy priorities, and to align with the Australian Government’s National Strategic Action Plan for Rare Diseases—the first nationally coordinated effort to improve health and wellbeing outcomes for Australians living with a rare disease.

The ARDRN is open to all Australian-based researchers involved in rare disease research across diverse disciplines and career stages who are formally and directly affiliated with academic or research institutions. Members will be invited to meet virtually through periodic virtual forums and email correspondence driven by gaps, opportunities and emerging needs in rare disease research.

Vision for the Australian Rare Disease Research Network

As it evolves over time, we anticipate the ARDRN will encourage:

• Increased Connectivity and Visibility
  A national community of rare disease researchers that is better connected, increasing visibility of rare disease research activity, expertise, and infrastructure across Australia.
• Collective Collaboration
  A vehicle for knowledge exchange to share plans, findings, and strategic priorities to minimise duplication and promote potential partnerships.
• Policy Focus
  A forum that facilitates research translation and alignment with the Action Plan, as well as other key Australian frameworks and global rare disease priorities.

Downloads

Australia’s Top 10 Rare Disease Research Priorities Report

Australia’s Top 10 Rare Disease Research Priorities

Registration

Register to join the ARDRN by completing the form below. Once registered, you’ll receive an invitation to the inaugural meeting and official launch of Australia’s Top 10 Rare Disease Research Priorities.

Rare Voices Australia’s (RVA) Education and Advocacy Manager, Louise Healy, and Research and Evaluation Manager, Dr Falak Helwani, were delighted to attend the Human Genetics Society of Australasia’s (HGSA) 47^th Annual Scientific Meeting between 10 and 13 August 2024. The theme of the meeting was, Beyond Next Generation: The Future of Genomics. At the meeting, attendees heard from a variety of Australian and international experts speaking on topics ranging from emerging gene therapies and pharmacogenomics, to integrating genomics into medicine and novel approaches to genetic counselling. We also heard updates from several RVA research partners, including members of the GenSCAN Consortium.  

This year, HGSA donated booth space in the exhibitor hall to not-for-profit organisations, including RVA and RVA Partner Genetic Alliance Australia. RVA would like to thank the organisers for the opportunity to have a dedicated space to showcase RVA’s work and for encouraging delegates to visit and learn more about our work. Louise Healy was pleased to present RVA’s poster, Resources for People from Priority Populations Living with a Rare Disease: Lessons Learned and Gaps Identified, co-authored by Louise, Jess Brooklyn (RVA’s Education Project Officer) and Nicole Millis (RVA’s Chief Executive Officer). Louise also co-chaired one of the oral poster sessions.

RVA would like to congratulate our Scientific and Medical Advisory Committee (SMAC) members A/Prof Paul Lacaze and Dr Jane Tiller for their thought-provoking workshop on population genomic screening of adults for medically actionable conditions. Congratulations also to SMAC member, Dr (Elizabeth) Emma Palmer, for her presentation in the Australasian Association of Clinical Geneticists special interest group session, which brought attention to outcomes from the Rare Disease Awareness, Education, Support and Training (RArEST) Project, including the National Recommendations for Rare Disease Health Care, as well as the RARE Helpline and the Rare Awareness Rare Education (RARE) Portal.

Rare Voices Australia, with support from Western Australia’s (WA) Office of Population Health Genomics (OPHG), has progressed aspects of the Australian Government’s National Strategic Action Plan for Rare Diseases with a focus on mental health and wellbeing. Two Mental Health and Rare Disease fact sheets, customised for WA, are available to download. Please feel free to share these resources widely with your networks to help spread the word.

Download the Fact Sheets

Mental Health and Rare Disease fact sheet for consumers [PDF]

Mental Health and Rare Disease fact sheet for health professionals [PDF]

How the Fact Sheets Were Developed

The fact sheets were developed based on a rare disease and mental health and wellbeing landscape analysis combined with consultations with a wide range of stakeholders, including people living with a rare disease; rare disease groups/organisations; clinicians with rare disease expertise; mental health professionals; and WA based community organisations.

On 28 June 2024, Rare Voices Australia (RVA) was invited to a public hearing to present to the Joint Standing Committee on the National Disability Insurance Scheme (the Committee) regarding their Inquiry into the participant experience of people living in rural, regional and remote areas. This invitation was based on the strength of RVA’s submission to the Committee in February 2024. We thank the RVA Partner groups/organisations that contributed examples of their lived experience for the submission. Read the submission.

Fiona Lawton, RVA’s Disability Advocacy Manager, and Louise Healy, our Education and Advocacy Manager, represented RVA as the national peak body for Australians living with a rare disease. RVA remains concerned that some of the questions and comments from policymakers at the public hearing indicate an ongoing lack of understanding about the important link between rare diseases and disability, and most importantly, how this impacts a significant number of Australians living with a rare disease. (RVA estimates that 100,000 NDIS participants live with a rare disease comorbidity.) Certain questions displayed a very limited understanding of the arbitrary line policymakers often draw between health and disability supports, creating significant gaps in care and support for those with a disability caused by a rare disease. RVA attempted to raise these concerns during the public hearing. We have also responded to questions on notice regarding these matters, expressing our concerns and highlighting common experiences raised during our virtual roundtable engagement session in April 2024 with RVA Partner groups/organisations.

Public Hearing Hansard Transcript

You can read the questions and comments raised in the public hearing Hansard transcript. RVA believes our responses to the questions on notice will be published on the Inquiry web page.

Rare Voices Australia’s Ongoing Rare Disease Disability Advocacy

RVA will continue having robust discussions with the National Disability Insurance Agency, the Hon Bill Shorten MP, the Minister for the National Disability Insurance Scheme, and other policymakers to advocate for rare disease data collection and rare disease expertise to inform current reform activities and policy codesign.

Rare Voices Australia (RVA) is preparing for our annual Strategy Review session in July where, as an organisation, we discuss our focus areas and priorities for the future. RVA is asking all stakeholders in the rare disease sector for their input ahead of our Strategy Review meeting. Your responses will be considered and assist in informing RVA’s priorities in 2024 and beyond. The survey will take approximately 10 minutes to complete. Complete the survey via Survey Monkey.