Author: Sarah Cannata

As part of the Rare Disease Disability Project (the Project), Rare Voices Australia (RVA) is facilitating virtual kitchen table peer support sessions. Two sessions will be held:

• A session for people living with rare disease disability
• A separate session for caregivers of people living with rare disease disability

Who Are the Rare Disease Disability Virtual Kitchen Table Sessions For?

Members of the general public living with rare disease disability or caring for those living with rare disease disability. Input from RVA Partners (rare disease groups/organisations) is being captured through the Rare Disease Disability Network (RDDN). The RDDN is open to leaders from RVA Partner groups/organisations and other sector stakeholders. If you are an RVA Partner leader who is interested in joining the RDDN, please reach out: [email protected]

Virtual Kitchen Table Session Details

Date: Thursday, 22 May 2025

Registration

Session for people living with rare disease disability (11am – 1pm AEST)

Session for caregivers of people living with rare disease disability (2pm – 4pm AEST)

The topic for these initial sessions is Rare Disease Disability Resources: What’s Working? What’s Missing? Come and share the resources and strategies you use to navigate rare disease disability needs in health, education, housing, employment, and the National Disability Insurance Scheme. Share ideas, learn from others and connect through this peer support session.

RVA is proudly delivering projects for the Peer Support and Capacity Building grant for the NDIS. 

Queries

Please send any questions you may have about the virtual kitchen table peer support sessions or the Project to: [email protected]. 

The revised National Statement on Ethical Conduct in Human Research 2025 (National Statement) was published on 6 March 2025. The 2025 National Statement will take effect, and replace the 2023 National Statement, from 1 October 2025. Read more about the intended use of the National Statement.

Rare Voices Australia (RVA) would like to congratulate the National Health and Medical Research Council on their work to revise and strengthen the National Statement based on stakeholder feedback, including from RVA as the national peak body for Australians living with a rare disease.

Rare Voices Australia’s Input

In 2024, RVA provided a submission to the review of Section 4 of the National Statement that aligns with the Australian Government’s National Strategic Action Plan for Rare Diseases. We are pleased to see much of that feedback reflected in the changes. RVA welcomes the acknowledgement, in Section 2, that ‘those reviewing research should take into account any willingness by participant populations to assume greater risks or burdens because of their perception of the potential benefits to them, their families, or groups or communities to which they belong’. Given the inherent limitations in rare disease data and treatments, this is an important consideration for rare disease researchers.

RVA also welcomes the changes to Section 4, which was the focus of RVA’s submission. The changes include new and revised sections relevant to many Australians living with a rare disease highlighting recommendations for involving people experiencing physical or mental ill-health or disability, and for research conducted in other countries. Other important changes include explicit acknowledgement in the National Statement of:

• the complex, multifaceted and often changing circumstances impacting an individual’s risk of harm from participation in research and the need to consider modifications to the design of the research project to mitigate such risks and maximise inclusion; and
• the need to consult with relevant individuals, organisations and other relevant stakeholders to better understand participants’ risks

RVA encourages all Australian rare disease researchers, and any stakeholders involved in rare disease research, to familiarise themselves with the revised National Statement.

Why Is the National Statement on Ethical Conduct in Human Research 2025 Important?

The National Statement is intended for use by:

• any researcher conducting research with human participants
• any member of an ethics review body reviewing that research
• those involved in research governance
• potential research participants

Imagine a future where Australia is a leading destination for health and medical research. Have your say on improving ethics review processes.

The Australian Government Department of Health and Aged Care (the Department), in collaboration with all state and territory governments via the Inter-Governmental Policy Reform Group (IGPRG), is working on national reforms to improve how health and medical research is conducted.

The national reforms will make it easier and safer for researchers, industry and participants to conduct, invest and take part in, high-quality and ethical human research, including clinical trials for rare diseases.

One major reform is the introduction of quality standards and an accreditation scheme for Human Research Ethics Committees (HRECs) and their host institutions.

HRECs promote the ethical conduct of human research by providing advice on the protection of research participants and the scientific validity of the research. In Australia, HRECs are usually established and resourced by a host institution, which may be a hospital, a university, a medical research institute, a government agency or a private organisation.

Right now, ethics review processes can be inconsistent and inefficient, leading to delays. This can slow down research and reduce public trust in the ethics review system.

The Department has developed a set of Quality Standards for HRECs. These standards aim to improve the quality, consistency and efficiency of ethics reviews while maintaining high ethical integrity.

Institutions and their HRECs will be assessed by an independent body, to check if their ethics review processes meet these new standards. Accreditation will show that their ethics review processes are reliable and of high quality.

All Australian HRECs reviewing health and medical research, across the public, private, university and not-for-profit sectors will be able to apply for accreditation to the Quality Standards. A national accreditation system will:

• Help make ethics reviews more consistent
• Reduce duplication
• Speed up research approvals
• Increase transparency
• Build trust and confidence in ethics reviews
• Reassure communities about their participation in health and medical research.

The Department want to hear your views on the draft Quality Standards for HRECs and their host institutions and the options for accreditation. National public consultations on the Quality Standards will be held from 3 March to 17 April 2025, and can be accessed via this webpage or by scanning the QR code below.

Quality Standards and the future Accreditation Scheme for Human Research Ethics Committees and Their Host Institutions

Please join the Department for an information session about the Quality Standards and the future Accreditation Scheme for HRECs and their host institutions on Wednesday, 2 April at 11:00 am – 12:00 noon AEDT. You can register via this webpage.

For more information about these reforms, please visit the Australian Clinical Trials website.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) is leading the Rare Disease Disability Project (the Project). We are proudly delivering projects for the Peer Support and Capacity Building grant for the National Disability Insurance Scheme (NDIS). If you would like help understanding this article, please reach out to RVA via the contact listed at the bottom of the article. You will find Terms of Reference listed below for a Stakeholder Reference Group (SRG) that will guide this Project. An Easy English version of the Terms of Reference is available.

Overview: The Rare Disease Disability Project

This 2-year Project focuses on peer support and capacity building and will conclude in December 2026. The Project will be guided by a SRG comprising people with lived experience of rare disease disability and diverse representation from priority populations (Aboriginal and Torres Strait Islander people; culturally and linguistically diverse communities; people living in regional, rural and remote areas; and other groups). Building on the existing strengths of the rare disease sector, the Project’s activities will identify and aim to address gaps in peer support and self-advocacy for people living with a rare disease disability. See the SRG Terms of Reference for more information about the Project.

Role of the Stakeholder Reference Group

• Share their lived experience and help to identify gaps to establish priorities
• Select 5 projects to receive grants to develop resources for specific groups of people living with rare disease disabilities
• Help to codesign the Rare Disease Disability Toolkit
• Help oversee program quality and evaluate effectiveness

Successful candidates will be selected through an EOI process and will be guided by the criteria outlined in the SRG Terms of Reference (available below). At least 50% of SRG members will have direct lived experience of a rare disease disability. The remainder of the SRG will comprise family, carers, disability and other experts. EOIs close Sunday, 13 April 2025 and anyone interested can request help with their EOI.

Participation in the Stakeholder Reference Group

SRG members will be expected to:

• Participate in several activities, including online discussions, meetings, interviews/surveys, and workshops
• Review and comment on documents and resources

The SRG will be offered multiple opportunities and methods to provide feedback, including in writing, during meetings, verbally and so on. SRG members will be asked to participate in as many engagement activities as possible, and members will receive an honorarium payment that aligns with the Health Consumers New South Wales Remuneration and Reimbursement of Health Consumers Position Statement. Up to 15 hours each year will be allocated to each member for SRG-related activities from May 2025.

What You Need to Know Before Lodging an Expression of Interest

• Stakeholder Reference Group Terms of Reference [PDF]
• Stakeholder Reference Group Terms of Reference – Easy English [PDF]

How to Submit Your Expression of Interest

Use the online form on this webpage to submit your EOI by Sunday, 13 April 2025.

Questions

RVA is happy to answer any questions you may have about the Project or SRG. You are also welcome to request help with your EOI. Please contact Amanda Dickey, RVA’s Disability Project Officer.

Email: [email protected]

Phone: 0499 860 319

Why This Work Is Important

There is significant unmet need for mainstream, community, and foundational supports among Australians living with rare disease disabilities, including families and carers. Nearly all of the estimated 2 million Australians living with a rare disease experience long-term impacts daily – impacts that meet the Australian Government’s definition of a disability.

This Project will address the unmet needs of people living with a rare disease disability outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). The Action Plan is the first nationally coordinated effort to address rare diseases in Australia.

The Health Technology Assessment Review Implementation Advisory Group (the IAG) has a dedicated web page on the Department of Health and Aged Care’s website. Rare Voices Australia (RVA) encourages all stakeholders in the rare disease sector to check the web page regularly for the latest updates.

The web page includes:

• The role of the IAG
• Membership, which includes a consumer role dedicated to rare disease (Nicole Millis, RVA’s CEO, was appointed to this role)
• Terms of reference
• Meetings
• Communiques
• Contact details

Ministerial letter

Under the terms of reference section, you can download a letter from the Hon Mark Butler MP, the Minister for Health and Aged Care, to Professor Andrew Wilson AO, IAG Chair. The letter outlines the Minister’s priority areas for IAG consideration in line with the terms of reference.

Background information

The Health Technology Assessment (HTA) Policy and Methods Review final report

Alongside the rare disease sector, as the national peak body for Australians living with a rare disease, RVA contributed to the extensive consultation process for the Health Technology Assessment (HTA) Policy and Methods Review. When launching the publication of the HTA Policy and Methods Review final report, the government acknowledged the extensive consultation and stakeholder input that informed Accelerating Access to the Best Medicines for Australians Now and into the Future.

Upon its launch, RVA was cautiously positive about the final report, which contains 50 recommendations and references the National Strategic Action Plan for Rare Diseases. We also noted that some of the recommendations can be further strengthened from a rare disease perspective. RVA raised this feedback directly with the Minister for Health and Aged Care’s office.

Enhanced Consumer Engagement Process

The 10 recommendations from the Enhanced Consumer Engagement Process, Enhance HTA: An Enhanced Consumer Engagement Process in Australian Health Technology Assessment – A Report of Recommendations, were released as a companion document to the final report. Nicole Millis, RVA’s CEO, was one of the five consumer members on the Co-design Working Group that contributed to this report.

It’s important to note that this work was informed by, and builds on, The New Frontier – Delivering better health for all Australians.

RVA acknowledges and thanks the many stakeholders across the rare disease sector for their strong contributions to the above processes.

Rare Disease Day is marked on the last day of February annually. In 2025, Rare Disease Day falls on 28 February. Rare Disease Day is the globally coordinated movement for rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis for people living with a rare disease. Globally, 300 million people worldwide live with a rare disease. Locally, Rare Disease Day is also an opportunity to raise awareness and inform policymakers about the issues faced by the Australian rare disease community, with the aim to achieve the best outcomes for Australians living with a rare disease.

The 2025 Rare Disease Day video showcases people living with a range of rare diseases from all around the world, including former RVA Ambassador, Tammie Rees, and her daughter Ava who lives with Maple Syrup Urine Disease, a rare metabolic disease.

Rare Voices Australia’s Role in Rare Disease Day as the National Peak Body for Australians Living with A Rare Disease

As the national peak body for Australians living with a rare disease, RVA is the national alliance representing Australia in annual Rare Disease Day preparations. We are also on the Rare Disease Day Steering Committee, which takes a longer-term strategic view of the campaign. RVA marks Rare Disease Day with our annual Parliamentary Event, hosted by the Parliamentary Friends of Australians Living with Rare Diseases. In 2025, the Parliamentary Event took place on 11 February 2025. Read the highlights and see the photos from the event on RVA’s website. Over 100 guests, including people living with a rare disease; governments; key peak bodies; researchers; clinicians; and industry, joined us making this year’s event one of RVA’s largest-ever Parliamentary Events. This is testament to the momentum gained by the rare disease sector in recent years.

Global Chain of Lights and Landmark Illuminations in Australia

The Global Chain of Lights is a key Rare Disease Day initiative, with the global community coming together to illuminate landmarks in support of people living with a rare disease.

Download the current list [PDF] of landmarks around Australia that will be illuminating for Rare Disease Day. *Note: landmark illuminations are subject to change and RVA will continue updating the document as needed.

If you take pictures of the illuminations or other Rare Disease Day activities and would like to share them, please email: [email protected]. Alternatively, you can tag RVA on social media.

How to Get Involved in Rare Disease Day

• Share the official 2025 Rare Disease Day video
• Download the official campaign materials via the official Rare Disease Day website
• Submit any upcoming Rare Disease Day events via this web page on the official site
• Use the official hashtag on social media: #RareDiseaseDay #MoreThanYouCanImagine  
• Help organise landmark illuminations
• Approach local media to share your personal story and help raise awareness about rare diseases in Australia – RVA has put together a Media Pack for media activity you or your group/organisation would like to engage in (see below)

See the ‘Get Involved’ menu on the official Rare Disease Day website for more ideas.

2025 Rare Disease Day Media Pack

Download a media release template [Word] on RVA’s website. We encourage you to customise the media release template as needed.

Download a one-pager on RVA’s website [PDF] with more information about rare diseases, Rare Disease Day and RVA. You can send the PDF to media seeking more information about Rare Disease Day.

RVA Partner groups/organisations that would like assistance with any planned media activities are encouraged to reach out to RVA directly: [email protected]

Thank you to those who attended Rare Voices Australia’s (RVA) Rare Disease Day Parliamentary Event hosted by the Parliamentary Friends of Australians Living with Rare Diseases on 11 February 2025. Over 100 guests, including people living with a rare disease; governments; key peak bodies; researchers; clinicians; and industry, joined us making the event one of RVA’s largest-ever Parliamentary Events. This is testament to the momentum gained by the rare disease sector in recent years.

Acknowledgements

RVA thanks the following parliamentarians who spoke at the event:

• Hon Mark Butler MP, Minister for Health and Aged Care
• Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care
• Dr Mike Freelander MP, Co-Chair of the Parliamentary Friends of Australians Living with Rare Diseases and Member for Macarthur
• Dr Monique Ryan, Co-Chair of the Parliamentary Friends of Australians Living with Rare Diseases and Member for Kooyong
• Senator Wendy Askew, Co-Chair of the Parliamentary Friends of Australians Living with Rare Diseases and Senator for Tasmania

Given the upcoming 2025 Federal Election, this was the final gathering of the Parliamentary Friends of Australians Living with Rare Diseases. RVA will pursue its reformation post-election. RVA also thanks Fiona Lawton, our Disability Advocacy Manager, for sharing her family’s story and her experience with rare disease disability advocacy. You can read Fiona’s speech on RVA’s website. Finally, thanks to Dr Tarun Weeramanthri AM, RVA’s new Chair, who took the opportunity to introduce himself and share his vision for RVA.

Additionally, we thank everyone who attended the Parliamentary Event, particularly our RVA Partners (rare disease group/organisation representatives). We understand travelling to Canberra isn’t always easy, but your efforts make all the difference as the ongoing collaborative implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases continues.

Special thanks also to the RVA Board Directors and Scientific and Medical Advisory Committee members who joined us.

The Importance of Federal Parliamentary Events

Parliamentary Events enable stakeholders to meet and speak with parliamentarians to further highlight rare diseases. Nearly all the estimated two million Australians living with a rare disease experience long-term impacts daily – impacts that meet the Australian Government’s definition of a disability. The disability impacts of living with a rare disease often aren’t recognised by policymakers. Enabling politicians to gain a better understanding and awareness about rare diseases is even more important as 2025 is a Federal Election year.

About Rare Disease Day and Its Significance Globally and Locally

Rare Disease Day is marked on the last day of February annually. In 2025, Rare Disease Day falls on 28 February. Rare Disease Day is the globally coordinated movement for rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis for people living with a rare disease. Globally, 300 million people worldwide live with a rare disease. Locally, Rare Disease Day is also an opportunity to raise awareness and inform policymakers about the issues faced by the Australian rare disease community, with the aim to achieve the best outcomes for Australians living with a rare disease.

The 2025 Rare Disease Day video showcases people living with a range of rare diseases from around the world, including former RVA Ambassador, Tammie Rees, and her daughter Ava who lives with Maple Syrup Urine Disease, a rare metabolic disease. Watch the video below and download the campaign materials via the official Rare Disease Day website. You can also submit any upcoming Rare Disease Day events via this web page.

As the national peak body for Australians living with a rare disease, RVA is the national alliance representing Australia in annual Rare Disease Day preparations. We are also on the Rare Disease Day Steering Committee, which takes a longer-term strategic view of the campaign.

Australia’s Health Ministers have agreed to add biotinidase deficiency as a target condition in Newborn Bloodspot Screening (NBS) programs nationally. States and territories will now prepare programs to implement screening for biotinidase deficiency. Additionally, Health Ministers agreed that the following conditions will be listed as non-target conditions in Australia’s NBS programs: 

• Ethylmalonic encephalopathy    
• Citrullinemia Type II  
• 2-methylbutyrylglycinuria  
• Congenital adrenal hyperplasia (11 beta-hydroxylase deficiency)    
• Tyrosinemia, transient    
• Hypermethioninemia    
• 2-methyl-3-hydroxybutyric aciduria    
• Medium/short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency    
• Duarte galactosemia    

You can find more information about Australia’s NBS program on the Department of Health and Aged Care’s (DoH) website.

Fact sheets

Two NBS fact sheets are available on the DoH’s website under Resources:

• NBS – Our national decision-making pathway fact sheet
• NBS – Delivering consistency and expansion fact sheet

The NBS Delivering consistency and expansion fact sheet has been updated to reflect recent developments in NBS expansion.