Hi RVA Supporter,

Rare Voices Australia (RVA) remains committed to important health technology assessment (HTA) reform. We have provided feedback through multiple surveys on:

• Definitions of high unmet clinical need and high added therapeutic value.  
• Pharmaceutical Benefits Advisory Committee (PBAC) guidelines relating to comparator and discount rates.
• The consumer engagement framework.

Disappointed by the limited investment in HTA reform in the most recent Federal Budget, RVA continues to advocate strongly, both separately and collectively, to Minister Butler about the government’s approach to implementing HTA reform, including the anticipated release of the Implementation Advisory Group (IAG) Roadmap, how reform will be resourced and how consumers will be engaged meaningfully as implementation progresses.

RVA will also attend a meeting next week with Minister Butler and other consumer group representatives to discuss HTA reform implementation. Thank you to Louise Healy, RVA’s Education and Advocacy Manager, Ann Single, RVA Scientific and Medical Advisory Committee (SMAC) member and Chief Executive Officer (CEO) of Patient Voice Initiative, and Sharon Winton, CEO at Lymphoma Australia, for organising this meeting on behalf of consumer group representatives.

2026 National Rare Disease Summit and 2026 Rare Disease Disability Network Showcase

Save the date messages have now been distributed to the Rare Disease Disability Network Showcase (RDDN Showcase) on 19 November 2026 and the National Rare Disease Summit (the Summit) on 20 and 21 November 2026. Both events are being held in Melbourne at the same venue. Attendance is by invitation only to ensure representation across the sector. Formal invitations for both events will be distributed shortly.

The Summit theme is Equity: Gaps and Opportunities. Television and radio presenter, Julian Morrow, will return as our Master of Ceremonies. The Summit brings together key stakeholders in the rare disease sector for a two-day program that includes a mix of plenary sessions, panel discussions, group work and networking opportunities. Key stakeholders include people living with a rare disease, governments, key peak bodies, researchers, clinicians and industry. RVA will share more information about the Summit as soon as we can.

RVA is also excited to facilitate the second RDDN Showcase. The RDDN Showcase is part of the Rare Disease Disability Project (the Project), which is funded by the Australian Government through the Peer Support and Capacity Building grant for the National Disability Insurance Scheme (NDIS). The RDDN is an RVA-led peer support and capacity building network for rare disease community-led organisations and invited sector stakeholders that has been helping to inform the Project, which continues until December 2026. We look forward to celebrating the outcomes of the Project, while also looking ahead in terms of broader rare disease disability reform and advocacy.

Refreshed Rare Voices Australia Website

Our team has been refreshing RVA’s website. Our new-look website is launching in July. We have created a more engaging, user-friendly, and accessible website that makes it easier to find the information you’re looking for. RVA is excited to share the refreshed website and is committed to ensuring our websites and broader online presence remain person-centred and responsive to key rare disease stakeholders.

Acknowledgements

RVA congratulates SMAC member and CEO of Patient Voice Initiative, Ann Single, on being appointed President of Health Technology Assessment international (HTAi). HTAi is a collaboration of HTA professionals dedicated to shaping the future of health systems and improving health outcomes for people.

Additionally, RVA congratulates SMAC member, Dr Lisa Ewans, who is one of four successful recipients of SPHERE’s (Sydney Partnership for Health, Education, Research and Enterprise) new Health Innovation Fellowship program. Dr Ewans will lead the project, RareEquity: Redesigning and implementing a more equitable rare disease diagnostic pathway for priority populations. Learn more at SPHERE’s website.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Grace's story highlights the uncertainty involved in rare disease and the importance of genome sequencing. As Grace's mum writes, "Grace is an amazingly determined little girl who never gives up."

RVA will be hosting the next National Rare Disease Summit on 20 and 21 November 2026 in Melbourne. The 2026 Rare Disease Disability Network Showcase will take place on 19 November at the same venue. Attendance at both events is by invitation only to ensure appropriate representation across the sector. Save the date emails have been distributed, and invitations will be sent shortly. 

On 19 June 2026, Australian Health Ministers met to discuss several health system reform priorities. As published in the follow-up Communique, Health Ministers agreed to add mucopolysaccharidosis type 1 (MPS I) and type 2 (MPS II) to Australia’s newborn bloodspot screening (NSB) programs. RVA acknowledges those in the MPS community who have engaged in the NBS and Medical Services Advisory Committee (MSAC) processes for their advocacy.

At the meeting, Health Ministers supported MSAC’s recommendation not to introduce NBS for Pompe disease at this time. As stated in the Communique:

“This was because MSAC advised the current screening tests and diagnostic tests (including genetic tests) will mostly identify babies who may develop the late-onset form of Pompe disease that shows symptoms in adulthood. MSAC considered there to be a greater potential for harm than benefit from NBS for these children. The Department of Health, Disability and Ageing will continue to monitor emerging evidence relating to newborn screening for Pompe disease and reconsider its decision if appropriate.”

RVA acknowledges those who have engaged in the NBS and MSAC processes for these conditions for their efforts and ongoing commitment. We understand that this outcome is extremely disappointing for RVA Partner, the Australian Pompe Association, which has long been advocating for Pompe’s inclusion on the NBS. We acknowledge the ongoing lack of diagnostic pathways for Pompe disease and their impacts on those living with Pompe disease and their families. Read the full article at RVA's website.

The second Australian Rare Disease Research Network (ARDRN) virtual meeting for 2026 was held in June. The ARDRN has grown to over 120 members, including rare disease researchers from a range of jurisdictions, disciplines and career stages. Importantly, there are members with research policy expertise, including representatives from Genomics Australia and Research Australia.

RVA thanks the 35 ARDRN members who joined the June meeting. Additionally, we thank guest speakers Louise Healy, RVA Education and Advocacy Manager; Zurani Ong, Lyfe Languages’ Operations Manager; and Clin/Prof Gareth Baynam, Director of the Centre of Expertise for Rare and Undiagnosed Diseases (Rare Care Centre), for sharing their work. We also thank ARDRN co-chairs, Dr Lisa Ewans and Clin/Prof Gareth Baynam, for co-chairing the meeting. Read the full update at RVA's website.

The National Health and Medical Research Council (NHMRC) has shared an exciting major step forward for Australian research and innovation, with treaty negotiations now concluded for Australia’s association to Horizon Europe, the world’s largest research and innovation program. RVA lodged a submission into the consultation on Australia’s potential association with Horizon Europe. From 1 January 2027, Australians will be able to apply directly for funding, opening the door to leading and collaborating on projects tackling global challenges.

This opportunity is broader than health and medical research. Australian researchers, industry and business can partner with leading researchers across Europe and beyond, helping Australian organisations plug into global supply chains and bring ideas to market faster.

As it moves towards full association, the NHMRC will continue supporting international collaboration. The 2026 NHMRC–Horizon Europe grant opportunity will proceed as planned, but no separate round will be offered in 2027. For enquiries, please contact: Horizon.Europe@industry.gov.au.

The Office of Health Technology Assessment’s (OHTA) Consumer Evidence and Engagement Unit (CEEU) is exploring practical ways to give clear and consistent feedback to consumers and consumer organisations about how their input was used during the health technology assessment (HTA) process and in HTA committee discussions. This work responds to feedback from consumers and consumer organisation that have said they want to understand what happens to the input provided. To learn more and take the survey, visit the Department of Health, Disability and Ageing’s website. The consultation closes on 13 July 2026.

The National Disability Insurance Scheme (NDIS) is facilitating a series of online webinars and forums in July, including two online community forums on Mandatory Registration of Supported Independent Living (SIL) and platform providers. These sessions will provide information about the upcoming changes. Delivered as a panel discussion, the sessions will cover what is changing, why these changes are being introduced, and what they may mean for participants, families, carers, and the broader disability community. The session details are below.

Mandatory Registration of Supported Independent Living (SIL) and platform providers

Dates: Wednesday, 1 July 2026 at 11am AEST and Thursday, 2 July 2026 at 4pm AEST

Register for free at the Humanitix website.

'Understanding the NDIS' Webinars

Understanding the NDIS webinars are national information sessions that outline the roles, responsibilities, and core processes of the NDIS. These sessions support participants, families, and communities to better understand, access, and navigate the NDIS. Download this PDF flyer to learn more about these webinars. For more information about upcoming events, visit the NDIS Events page.

If you are 20-28 years old, live with a diagnosed rare disease and use social media, you may be interested in sharing your experiences and needs. Researchers at Fondation Ipsen are looking for people in this cohort to help shape future digital support resources through a research study. See the flyer. If you are interested, please email: fondation@ipsen.com. Fondation Ipsen is a non-profit foundation under the aegis of Fondation de France that focuses on advancing the needs of people living with rare diseases.

For more information about things to consider before participating in health and medical research, please visit the Considerations for Participating in Health and Medical Research page on the RARE Portal.

This article explores the unmet needs of children with rare diseases in rural and remote Australia, where families often face long travel distances, limited specialist access, poor continuity of care and fragmented support. Written by Australian Rare Disease Research Network member Dr Bradley MacDonald with several co-authors, including RVA Scientific and Advisory Committee member, Clin/Prof Gareth Baynam, the article highlights the difference that a cross-sector model of care that is person-centred can make to a child like Zade who lives with spinocerebellar ataxia type 29. Read the full article on the Medical Journal of Australia’s website.

Earlier this year, members of the seven International Rare Diseases Research Consortium (IRDiRC) committees gathered in Sofia, Bulgaria for the IRDiRC Consortium Assembly and Scientific Committees Meeting. IRDiRC shared this video following the meeting as a reflection on their shared efforts to advance rare disease research and innovation.

IRDiRC unites national and international governmental and non-profit funding bodies, companies (including pharmaceutical and biotech enterprises), umbrella patient advocacy organisations, and scientific researchers to promote international collaboration and advance rare disease research worldwide. RVA is an IRDiRC member.

Rare Awareness Rare Education (RARE) Portal

Australia's Growing National Resource for Rare Diseases

The RARE Portal is a living website in ongoing development, with new information added regularly. It contains verified rare disease information and resources, customised for the Australian context. Funded by the Australian Government, the RARE Portal is a key deliverable of the National Strategic Action Plan for Rare Diseases.

RARE Portal eNewsletter

Read the June 2026 RARE Portal eNewsletter. You can subscribe to receive upcoming RARE Portal newsletters by completing this form.

Multi-Stakeholder Consultation Process

The RARE Portal consultation process is ongoing and will include individual interviews with RVA Partner organisations in 2026.

Additions to the RARE Portal

• 3-hydroxy-3-methylglutaric aciduria

• Beta-ketothiolase deficiency (β-ketothiolase deficiency)

• Classical homocystinuria (Classical HCU) (co-developed with HCU Network Australia)

• Congenital adrenal hyperplasia (21-hydroxylase deficiency)

• Dopamine transporter deficiency syndrome (DTDS)

• Galactosaemia

• Glycogen storage disease

• Holocarboxylase synthase deficiency

• Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency (co-developed with HCU Network Australia)

• Myeloproliferative neoplasms (co-developed with Myeloproliferative Neoplasms Alliance Australia (MPN AA) and input from Professor Andrew Grigg)

• Primary congenital hypothyroidism (co-developed with Australian Thyroid Foundation)

• Rare cancers - group of conditions (co-developed with Rare Cancers Australia)

• Tick-bite associated illnesses

• Tyrosinaemia type II

• Tyrosinaemia type III

• X-linked adrenoleukodystrophy (X-ALD) (co-developed with Leukodystrophy Australia and input from Dr David Manser)

Contribute to the RARE Portal

All rare disease stakeholders are invited to help maintain the currency and accuracy of information on the RARE Portal. If you would like to contribute content or suggest a revision, please reach out to the RARE Portal team via the Contribute page.

RARE Help

The RARE Help page consists of resources that have been codesigned and evaluated by Australians living with a rare disease. The page consists of resources to address some of the most common questions RVA receives as the national peak body for Australians living with a rare disease. 

Rare Disease Disability Toolkit

The nationally codesigned Rare Disease Disability Toolkit (the Toolkit):

• Includes new peer-to-peer supports.
• Builds capacity in disability rights and self-advocacy.
• Supports people to better access and navigate disability and other systems (such as health, education and employment).

First Round of Resources:

1. National Disability Insurance Scheme (NDIS) and Rare Disease Disability – Part 1: Accessibility and Eligibility

2. Reasonable Adjustments in Healthcare: What Can I Ask For?

3. Navigating Air Travel with Rare Disease Disability

How to Use the Toolkit

Each resource includes a main guide and extra tools to help you speak up for yourself and use together with your support team. More resources will be added throughout 2026.

Share the Toolkit 

• Facebook: Rare Disease Disability Toolkit

• LinkedIn: Rare Disease Disability Toolkit

• Instagram: Rare Disease Disability Toolkit

Toolkit Development

The Toolkit was codesigned with people living with rare disease disability and facilitated by RVA. The Toolkit was funded by the Australian Government through the Peer Support and Capacity Building grant for the NDIS as part of the Rare Disease Disability Project.