Hi RVA Supporter,

In August, Louise Healy, RVA’s Education and Advocacy Manager, and I will be heading to Canberra for several political and departmental meetings. Rare Voices Australia (RVA) has secured a meeting with the Hon Mark Butler MP, the Minister for Health and Ageing and the Minister for Disability and the National Disability Insurance Scheme (NDIS) and Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care, Shadow Minister for Disability and the NDIS. We will also meet with Dr Mike Freelander MP, the Member for Macarthur, Dr Monique Ryan MP, the Member for Kooyong, and Senator Jordon Steele-John, the Senator for Western Australia. Louise and I will follow up with Mike and Monique regarding the reestablishment of the Parliamentary Friends of Australians Living with Rare Diseases as its former Co-Chairs (all Parliamentary Friendship Groups need to be reestablished post Federal Election).

Rare Awareness Rare Education (RARE) Portal Refresh

RVA is excited to share that the refreshed Rare Awareness Rare Education (RARE) Portal went live earlier this month. Thank you to all stakeholders, particularly our RVA Partner group/organisation leaders, for your willingness to work with RVA to continue developing the RARE Portal, Australia’s growing national resource for rare diseases. Your input into the RARE Portal is invaluable and has been central to informing the website refresh. We’re excited to showcase the sector’s work! Please help RVA continue to improve the RARE Portal by completing this short 2-minute survey after visiting the refreshed site.

Rare Disease Disability Project: Rare Voices Australia Partner Project Grants

In June, RVA Partner organisations were invited to apply for funding for RVA Partner Project Grants as part of the work being undertaken for the Rare Disease Disability Project (the Project). RVA is proudly delivering projects for the Peer Support and Capacity Building grant for the NDIS. The Project is being guided by a Stakeholder Reference Group (SRG) comprising people with lived experience of rare disease disability and diverse representation. There are 2 grant rounds, 1 was in June 2025 and another is scheduled for September 2025. We received a high number of applications and thank the RVA Partners that took the time to apply. Applications were assessed on how well they aligned with grant objectives and deliverables. They were then ranked by the SRG.

Based on the SRG’s ranking, RVA has offered grants to 2 recipients: Mito Foundation and Tuberous Sclerosis Australia and are in the process of finalising both grant agreements. Mito Foundation’s application detailed the creation of simple, useful resources to help people with progressive conditions and their carers get the emotional and practical support they need as their condition worsens. Tuberous Sclerosis Australia’s application focused on a Sibling Support Program to build peer to peer support and increase capacity for families impacted by rare disease disability. We will update the RVA Partner Project Grants web page at RVA’s website with more information as this work progresses.

The second grant round, currently scheduled for September 2025, will select the recipients of 3 additional projects. Organisations will need to be RVA Partners to apply. RVA will share more information with RVA Partners closer to September, including an FAQ document, plus general feedback and learnings from Grant Round 1. We encourage all RVA Partners to review the Grant Guidelines and Selection Criteria and consider applying once the next grant round opens. See the section dedicated to the Project in eNews below for the full monthly update.

New Australian Rare Disease Research Network 

RVA is facilitating the first meeting for the new Australian Rare Disease Research Network (ARDRN) on 18 September 2025 between 1pm and 2pm AEST. Facilitated and chaired by RVA and Scientific and Medical Advisory Committee 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 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. Learn more about the ARDRN and register to attend the first meeting at RVA’s website.

Australia’s Top 10 Rare Disease Research Priorities Launch

The inaugural virtual ARDN meeting will also mark the official launch of Australia’s Top 10 Rare Disease Research Priorities report. 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. Thank you to the rare disease community for your genuine interest in this work and to everyone who dedicated their time to participate and contribute. Download the full report and learn why this work matters at RVA’s website.

Rare Voices Australia Appointed to the National Strategy Technical Reference Group

RVA was pleased to accept an invitation to the National Strategy Technical Reference Group for the National Health and Medical Research Strategy (the National Strategy). Dr Falak Helwani, RVA’s Research and Evaluation Manager, will participate in the Technical Reference Group, which will support the next phase of development of the National Strategy. The group will comprise representatives from selected organisations across the health and medical research sector. RVA’s appointment to the Technical Reference Group will ensure Australians living with a rare disease continue to be represented as work on the finalisation of the National Strategy continues. Learn more about the National Strategy at the Department of Health, Disability and Ageing's website.

Welcome to Jo Campbell and Angela Lwin

RVA welcomes Jo Campbell to the team! Jo will be working on the RARE Helpline and has over 30 years of experience in nursing. She has helped many people navigate the complexities of the health system. Additionally, RVA welcomes Angela Lwin, a PhD student at the Institute for Molecular Bioscience. Angela is part of RVA's voluntary higher degree researcher placement program and has studied various fields in the lab, ranging from stem cell biology to cell biology. 

Congratulations to Professor Eric Morand

Finally, congratulations to former RVA Board member, Professor Eric Morand, who has been appointed a Sir John Monash Distinguished Professor by Monash University Council. I wish Eric all the best moving forward and thank him for his invaluable contribution to RVA.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Diane shares how being diagnosed with mitochondrial disease alongside her children impacted her health and career path. Now a passionate advocate for disability rights and systemic change, she draws on her PhD research, which explores the experiences of individuals in families with a life-limiting or chronic condition. Diane is also an RVA Ambassador. 

The Refreshed RARE Portal Is Live!

Australia's Growing National Resource for Rare Diseases

RVA is excited to share that our refreshed Rare Awareness Rare Education (RARE) Portal is live. RVA thanks all stakeholders, especially our RVA Partners (rare disease group/organisation leaders), for their willingness to work with us to continue developing the RARE Portal. RVA has adopted an extensive multi-stakeholder approach in the collaborative development of the RARE Portal. This robust and extensive consultation process remains central to the site's ongoing development. Each stakeholder group's input into the RARE Portal is invaluable and has been central to informing the website refresh. RVA is excited to showcase the sector’s work and the refreshed site!

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 2025 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 groups/organisations throughout 2025.

Additions to the RARE Portal

• Rare Disease Education and Support Resources for Primary Health Care Professionals (information page for health professionals)
• Bone marrow failure syndromes (Group of conditions) (rare disease page)

• Rare Disease Resources for the Aboriginal and Torres Strait Islander Community (page updated)

• Rare Disease Resources for the Culturally and Linguistically Diverse Community (page updated)

• Rare Disease Resources for the Regional, Rural and Remote Community (page updated)

• RARE Portal's About page (page updated)
• RARE Portal Editorial Team (new page)

The Kids Research Institute Australia (formerly the Telethon Kids Institute) and 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. Download the list of Top 10 Rare Disease Research Priorities. 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. Read more about the report at RVA's website.

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. Facilitated and chaired by RVA and Scientific and Medical Advisory Committee 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 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. Read more about the ARDRN and register for the first meeting at RVA's website.

RVA is hosting our next RVA Partner forum on Monday 11 August from 12pm-1pm AEST. All RVA Partner groups/organisations will be invited. These meetings provide RVA Partner representatives with the opportunity to get to know each other, share their learnings, insights, challenges and anything else that’s relevant to rare disease for discussion. RVA will distribute an email to RVA Partner groups/organisations with more information and the link to register next week. 

RVA welcomes Jo Campbell who will be working on the RARE Helpline! Jo has over 30 years of experience in nursing and has helped many people navigate the complexities of the health system. She has a diverse background across paediatric, adolescent, aged care and family centred care with extensive experience in chronic care. Jo provides an additional layer of practical and emotional support, education and connects people to existing services.

RVA welcomes PhD student, Angela Lwin who is studying at the Institute for Molecular Bioscience. Over the years, she has studied various fields in the lab, ranging from stem cell biology to cell biology. For the placement programme, Angela wanted an experience that will allow her to connect more directly with people. This led her to embarking on her journey with RVA. Before starting the placement, Angela was unaware of the many types of rare diseases. Being involved in this work will provide Angela with an opportunity to understand the needs, challenges, and lived experiences of those impacted by rare diseases.

Representatives of health consumer organisations with an interest in health technology assessment (HTA) are invited to a webinar with the Chair of the HTA Implementation Advisory Group (IAG), Professor Andrew Wilson AO, and the IAG’s two consumer representative members, Nicole Millis, RVA’s Chief Executive Officer (CEO), and Kirsten Pilatti, CEO at Breast Cancer Network Australia. This is an opportunity for Andrew, Nicole and Kirsten to provide the consumer sector with an update on the IAG’s work. It’s also an opportunity to ask questions. 

Webinar Details 

Date: Friday, 1 August 

Time: 2pm – 3pm (AEST) 

Microsoft Teams webinar link 

Mental Health First Aid (MHFA) Day will be celebrated for the first time ever on 19 August 2025. The day will highlight the global impact and raise awareness of MHFA as an essential life skill to support people facing mental health problems. This year’s theme is Make Every Conversation Matter.  With the right knowledge and skills, every conversation can be a turning point in someone’s life. Download support toolkits from MHFA’s website.  

Mental Health and Wellbeing Resources for Australians Living with a Rare Disease 

People living with a rare disease and their caregivers often face unique challenges that may impact their mental health and wellbeing. Several mental health and wellbeing resources have been developed to support Australians living with a rare disease. They include: 

• Mental health and wellbeing support for Australians living with a rare disease 

• RVA Online Education: Mental Health First Aid 
  

Health Professionals

• Supporting the mental health and wellbeing of people living with a rare disease 

Genomics Australia was established on 1 July 2025 to provide national leadership and coordination to better integrate genomics into the health system. Genomics Australia is located within the Medicare Benefits and Digital Health Division of the Department of Health, Disability and Ageing. Tiffany Boughtwood, the former managing director of Australian Genomics, has been appointed as Australia's first Australian Health Genomics Commissioner. She will guide the work of Genomics Australia and provide advice to government based on broad engagement with the sector and community. Read more about Genomics Australia on the Department of Health, Disability and Ageing's website.

On 5 June 2025, RVA attended a workshop co-hosted by Research Australia and Digital Health CRC. The workshop brought together key stakeholders from across the health and medical data, research and innovation ecosystem, including government, academia, peak bodies, and industry. A brief overview of the workshop is available on Digital Health CRC’s website.

RVA's Contribution

RVA provided input on behalf of Australians living with a rare disease at the workshop and to the draft Communique that was distributed afterwards. RVA endorsed the final Communique, which was published in July. RVA will now continue to be involved in the next steps to help progress this work, including reconvening with the group that attended the initial workshop to continue the conversation.

Researchers from Deakin University are interested in understanding the lived experience of Australian adults living with a rare disease, focusing on what supports and services are needed besides medical care. If you are an adult living with a rare disease for at least 12 months and have existing access to social support, the research team invites you to participate in a one-hour interview. See this flyer for more information.

The RARE Helpline provides service navigation support for rare and complex diseases. It aims to provide timely access to information and answer key questions people living with a rare and complex disease often face.

Contact Information and Hours

Phone: 0499 549 629
Hours: Monday to Friday 9am – 5pm (AEST)

Note: In the event of an emergency, call an ambulance on 000 or these support lines:

• Suicide Call Back Service – 1300 659 467

• Lifeline 24-hour counselling – 13 11 14

• 13Yarn - 13 92 76