Hi RVA Supporter,

As you may have seen on Rare Voices Australia’s (RVA) social media channels, I’ve been in Canberra this week alongside Louise Healy, our Education and Advocacy Manager. We engaged in several political and departmental meetings, and have a meeting with the Hon Mark Butler MP, Minister for Health and Ageing and Minister for Disability and the National Disability Insurance Scheme (NDIS), next week.

While in Canberra, Louise and I met with:

• Minister Butler's senior advisers
  

• An adviser from Senator the Hon Anne Ruston’s office. Senator Ruston is the Shadow Minister for Health and Aged Care and Shadow Minister for Disability and the NDIS

• Dr Mike Freelander MP, Member for Macarthur and Chair of the Standing Committee on Health, Aged Care and Disability

• Dr Monique Ryan MP, Member for Kooyong and Deputy Chair of the Standing Committee on Health, Aged Care and Disability

• Senator Wendy Askew, Senator for Tasmania

• Senator Jordon Steele-John, Senator for Western Australia

Louise and I raised several rare disease-related issues in these meetings, including Rare Disease Centres of Expertise, the interface between health and disability, as well as disability and health technology assessment reform. We also followed up with Mike, Monique and Wendy regarding the reestablishment of the Parliamentary Friends of Australians Living with Rare Diseases as former Co-Chairs (all Parliamentary Friendship Groups need to be reestablished post Federal Election). We are prioritising reestablishing the Parliamentary Friends of Australians Living with Rare Diseases.

PharmAus 2025

Louise and I are back in Canberra next week alongside Fiona Lawton, RVA’s Disability Advocacy Manager, for PharmAus 2025, hosted by Medicines Australia. PharmAus is Medicines Australia’s annual parliamentary event that represents the pharmaceutical industry. The 2025 theme is The Best New Medicines When You Need Them, and we are very excited that RVA will have a booth at the event. If you are attending PharmAus, please be sure to stop by RVA’s booth to say hello! We will be showcasing the Rare Awareness Rare Education (RARE) Portal with a fun photo opportunity for social media.

Human Genetics Society of Australasia's 48th Annual Scientific Meeting

Louise and Dr Falak Helwani, RVA’s Research and Evaluation Manager, attended Human Genetics Society of Australasia's (HGSA) 48th Annual Scientific Meeting earlier this month. By all accounts, the conference lived up to its theme, Genetic Ecosystems, and brought together a range of stakeholders. RVA is always pleased to attend such events as the national peak body for Australians living with a rare disease. We congratulate RVA Scientific and Medical Advisory Committee member, Dr (Elizabeth) Emma Palmer, on delivering the prestigious Sutherland Lecture.

I’d also like to acknowledge Giovi Moschoudis, Founder and Chief Executive Officer of RVA Partner Angelina CASK Neurological Research Foundation, and Mel Anderson, Director of RVA Partner PURA Foundation Australia, who bravely shared their personal stories at the conference. Although incredibly powerful, RVA never underestimates how challenging sharing personal stories can be. You can read Falak’s recap of HGSA on RVA’s website.

Rare Disease Disability Project

Planning is well underway for the end-of-year in-person Rare Disease Disability Network (RDDN) Showcase on 2 December 2025 in Brisbane ahead of the International Day of People with Disability on 3 December. Invitations have now been distributed to those invited. Attendance is by invitation only to ensure appropriate representation across the sector. The RDDN Showcase brings together leaders from rare disease groups/organisations and other invited sector stakeholders for the first time in person. If you have received an invitation, please RSVP by Friday, 31 October to attend.

Additionally, the second grant round for the Rare Disease Disability Project RVA Partner Grants will open on 18 September 2025. Organisations must be RVA Partners to apply, and full details will be distributed to RVA Partner organisations and the RDDN. Shortlisted grant recipients will be selected by the Stakeholder Reference Group, and projects can focus on tailored resources for the nationally codesigned Rare Disease Disability Project Toolkit or be standalone resources. Scroll down to read the full Rare Disease Disability Project update.

Welcome to Lucinda Walker

RVA welcomes Lucinda Walker to the team as our RARE Portal Officer! Lucinda first joined us last year as a volunteer PhD student. We are excited that Lucinda has officially joined RVA as a team member and will continue her work on the RARE Portal.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Ryan shares his journey to diagnosis and the challenges of living with two rare diseases. He reflects on how his greatest strength has come through purpose and community. As an RVA Ambassador, he aims to inspire others through his journey.

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 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 organisations throughout 2025.

Additions to the RARE Portal

• Finding Helpful Peer and Community Supports (information page, co-designed by RVA’s Ambassadors, the RARE Helpline team and RVA’s education and advocacy team)
• Primary immunodeficiencies (co-developed with Immune Deficiencies Foundation Australia (IDFA))
• Secondary immunodeficiencies (co-developed with Immune Deficiencies Foundation Australia (IDFA))
• Hereditary spastic paraplegia (Group of conditions)
• CHARGE syndrome
• Cold agglutinin disease
• Warm autoimmune haemolytic anaemia

The Hon Mark Butler MP, Minister for Health and Ageing and the Minister for Disability and the National Disability Insurance Scheme, announced the launch of the consultation on the draft National Health and Medical Research Strategy (National Strategy) on 27 August 2025. Read the media release on the Department of Health, Disability and Ageing’s website. The draft National Strategy is now open for public consultation. There are four ways for people to be involved, including by attending the National Health and Medical Research Strategy Chair Webinar on Monday 1 September 2025, from 11am to 12pm AEST. More information, including the registration details, are available via this web page.

As the national peak body for Australians living with a rare disease, RVA has been appointed to the National Strategy Technical Reference Group for 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 has been engaging in several key disability initiatives throughout 2025 to advocate on behalf of Australians living with rare disease disability. Read the August 2025 update at RVA's website to learn more about RVA's advocacy regarding Aviation Disability Standards, the Disability Discrimination Act Review and our attendance at the Queensland Disability Conference.

Between 14–18 August 2025, 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. Read our recap at RVA's website.

RVA welcomes Lucinda Walker to the team as our RARE Portal Officer! She will be working on the Rare Awareness Rare Education (RARE) Portal and has a background in scientific research. Lucinda holds a Bachelor of Advanced Science (First Class Honours) and is a final year PhD candidate and Global Challenges Scholar at the Institute for Molecular Bioscience at The University of Queensland. Her doctoral research focuses on understanding the molecular determinants of pain by combining toxin pharmacology and sensory neuroscience. Lucinda has previously worked on research in developmental genetics and Alzheimer’s disease. She is passionate about using her scientific literacy skills, developed through diverse research experiences, to empower others to better understand the diseases that affect them and their communities.

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. Thank you to the many researchers who have joined already! We look forward to seeing you at the first meeting.

RVA Online Education

RVA's online education complements RVA’s Education Program and contains courses exclusively available to RVA Partners and courses available to everyone. Once you have successfully completed a course, you will receive a certificate. You'll need to login or register via the website to access the courses.

NewbornsInSA is a research study looking to detect treatable childhood conditions earlier in babies born in South Australia. The research aims to identify babies with serious genetic conditions earlier than current methods by using 'genomic (DNA) screening' with the goal of facilitating earlier treatments for babies in need. For more information, refer to this brochure or visit the NewbornsInSA’s website. 

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