Lauren's story highlights the importance of genetic testing as well as early diagnosis and intervention in rare disease. Drawing on her professional expertise and lived experience as Sage’s mum and caregiver, Lauren is dedicated to advocating for the rare disease community. Lauren is also an RVA Ambassador.
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28 June Was International Neonatal Screening
Day
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28 June was International Neonatal Screening Day, which highlights newborn bloodspot screening’s (NBS) role in access to early diagnosis, timely treatment and a healthy start in life for every child. The recently adopted World Health
Assembly Resolution on Rare Diseases stresses the importance of universal access to early diagnosis, including NBS.
NBS is an important program that supports the earliest possible diagnosis of some rare diseases and enables the best immediate treatment and care. The Australian Government is investing $107.3 million from 2022–23 to 2027–28 to support the expansion of Australia’s NBS programs. This expansion assists in ensuring ‘equity of access’ and ‘sustainable systems and workforce’, which are foundation principles of the National Strategic Action Plan for Rare Diseases.
RVA, alongside other rare disease stakeholders, including RVA Partner groups/organisations, have called for increased equity, timeliness and consistency of screening for several years. RVA will continue to do so as the expansion of the NBS continues.
Learn more about Australia’s NBS programs, including the conditions screened for, on the Department of Health and Aged Care’s website.
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Live: Refreshed RVA Online Education
Portal
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RVA is excited to share that our refreshed Online Education Portal has launched. For those who have already registered, your username and login details remain the same. If you haven't registered yet to use the website, you can do so via the Registration page. RVA's Online Education Portal forms part of RVA’s Education Program and feedback from RVA Partner groups/organisations was integral in informing the refresh. The site contains both courses exclusively available to RVA Partners and courses available to everyone. Once you've taken a look at the refreshed site, please help RVA continue improving the Online Education Portal by completing this 2-minute survey. Please contact RVA if you encounter any issues accessing the website: communications@rarevoices.org.au.
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Rare Disease Disability Project Web Page
Launched
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RVA is leading the 2-year Rare Disease Disability Project (the Project), which concludes in December 2026. We are proudly delivering projects for the Peer Support and Capacity Building grant for the National Disability Insurance Scheme. This exciting, first-of-its kind initiative builds on the existing strengths of the rare disease sector. A dedicated web page on RVA's website has been launched. Please follow this page for the latest updates regarding the Project.
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Rare Disease Disability Virtual Kitchen Table
Peer Support Sessions: Thursday, 24 July 2025
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RVA is facilitating rare disease disability virtual kitchen table peer support sessions as part of the Rare Disease Disability Project. The next sessions will be held on Thursday, 24 July 2025. One session will be held for people living with
rare disease disability and a separate session will be held for caregivers of people living with rare disease disability.
Registration Links
Session for people living with rare disease disability (12pm - 1pm AEST)
Session for caregivers of people living with rare disease disability (8pm - 9pm AEST)
Who Are These Sessions For?
These sessions are for members of the general public living with rare disease disability or caring for people living with rare disease disability. The topic for these sessions is Navigating the system – what’s working for you?
Come and share any hints and tips, ideas and learn from others and connect through this peer support session.
Note: Please do not register for these sessions if you are an RVA Partner representative. You are welcome to join the Rare Disease Disability Network (email RVA: disabilityprojects@rarevoices.org.au)
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National Strategic Action Plan for Rare Diseases
The Australian Government's National Strategic Action Plan for Rare Diseases (the Action Plan) was launched in February 2020 by the Minister for Health with bipartisan support. You can access the Action Plan via the Department of Health and Aged Care's website and a suite of summary materials via RVA's website.
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Progressing Implementation of the National Strategy for
Australia’s Rare Metabolic Disease Workforce: Exciting Developments for Metabolic Medicine
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The Royal Australasian College of Physicians (RACP), together with the Human Genetics Society of Australasia (HGSA) and metabolic specialists, have been reviewing the clinical genetics curriculum, which encompasses metabolic genetics and cancer
genetics. Recent consensus suggests the clinical genetics curriculum should be considered separate to metabolic genetics, due to differences in the skills required for complex management of metabolic patients.
This new development from RACP and HGSA presents an exciting opportunity for metabolic medicine in Australia. Currently, the RACP and HGSA are considering a viable path forward. Read more about how this new development relates to the National Strategy for Australia’s Rare Metabolic Diseases Workforce (the Strategy) on RVA's website. The Strategy was commissioned by RVA and was guided by Australian metabolic experts and the broader sector.
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Student Placement Wrap-Up
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In February 2024, RVA onboarded University of Technology Sydney (UTS) Master of Genetic Counselling student, Dr Catherine Kennedy to conduct a scoping review as part of her course. Dr Kennedy’s scoping review aimed to identify examples of
evaluated and effective models, enablers and tools of care coordination that could be leveraged or adapted for Australians living with a rare disease. This project was driven by a known gap in care coordination for Australians living with a rare disease, strengthened through evidence from The Navigator Project and specifically the RARE Helpline.
RVA congratulates Dr Kennedy on the completion of her dissertation. We thank Dr Sharne Limb for her expertise and supervision and UTS for partnering with RVA. The results of Dr Kennedy’s work will not only inform outcomes of The Navigator Project, but also be useful evidence for RVA’s ongoing advocacy, identifying possible solutions for care coordination and progressing networked rare disease centres of expertise to improve the health and wellbeing of Australians living with a rare disease.
RVA is proud to support student placements to promote awareness and education of rare diseases among early-mid career researchers.
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RVA Highlighted As Part of the Institute for
Molecular Bioscience's 25th Anniversary Celebrations
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Dr Falak Helwani, RVA's Research and Evaluation Manager, was one of several alumni interviewed as part of the Institute for Molecular Bioscience's 25th year anniversary
celebrations. Read Falak's interview. “One of the most valuable things I gained was how to communicate research, beyond the lab, to a wider audience,” Falak said. She goes on to explain her personal connection to rare disease and how pivoting to freelance science communication eventually led to her role with RVA.
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There has been an increase in instances where stakeholders are using RVA's logo without permission. Please do not use RVA’s logo in any capacity without written consent. As the national peak body for Australians living
with a rare disease, it's important for RVA to ensure our logo is not misrepresented, misused, or associated with inappropriate content. You can request permission to use RVA's logo by contacting: communications@rarevoices.org.au.
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RARE Portal |
Australia's Growing National Resource for Rare Diseases |
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Rare Disease Disability Project News
Dedicated Rare Disease Disability Project Web Page
RVA has launched a dedicated web page on RVA’s website for the Rare Disease Disability Project to provide stakeholders with updates. Please continue checking RVA’s website for the latest updates.
Rare Disease Disability Virtual Kitchen Table Peer Support Sessions – Thursday, 24 July 2025
The next rare disease disability virtual kitchen table peer support sessions will be held on Thursday, 24 July. One session will be held for people living with rare disease disability and a separate session will be held for caregivers of people living with rare disease disability.
Registration Links
Session for people living with rare disease disability (12pm - 1pm AEST)
Session for caregivers of people living with rare disease disability (8pm - 9pm AEST)
Who Are These Sessions For?
These sessions are for members of the general public living with rare disease disability or caring for people living with rare disease disability.
The topic for these sessions is Navigating the system – what’s working for you?
Come and share any hints and tips, ideas and learn from others and connect through this peer support session.
Note: Please do not register for these sessions if you are an RVA Partner representative. You are welcome to join the Rare Disease Disability Network (email RVA: disabilityprojects@rarevoices.org.au)
Rare Disease Disability RVA Partner Project Grants
RVA Partner organisations have been invited to apply for funding as part of the first round of Rare Disease Disability RVA Partner Project Grants. There will be 2 grant rounds, 1 in June 2025 and another in October 2025. Shortlisted grant recipients will be selected by the Stakeholder Reference Group (SRG), which is guiding the Rare Disease Disability Project. 5 grants in total are available to fund projects related to rare disease disability. Projects can focus on tailored resources for the Rare Disease Disability Project Toolkit or be standalone resources. RVA has developed Grant Guidelines, which include information about the Selection Criteria and the process for shortlisting applications for consideration by the SRG. 2 grants will be awarded as part of grant round 1.
Organisations must be RVA Partners to apply.
Next Stakeholder Reference Group Meeting
The SRG will meet on 17 July 2025 to select the grant recipients from round 1 of the Rare Disease Disability RVA Partner Project Grants. The SRG will also set priorities for stage 1 of the nationally co-designed Rare Disease Disability Toolkit at this meeting.
Rare Disease Disability Network
The Rare Disease Disability Network (RDDN) met on 25 June. 25 leaders from RVA Partner organisations came together to discuss the progress of the Rare Disease Disability Project and participated in a rare disease specific consultation on the National Disability Insurance Scheme (NDIS) Supports rules led by the Department of Social Services’ (DSS) NDIS Governance, Policy and Legislation team. Network members also had the opportunity to discuss the current experiences of the rare disease disability community with the NDIS' Branch Manager, Engagement & Inclusion and discussed future NDIS reform
activities.
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RARE Helpline |
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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.
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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:
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| Visit the RARE Helpline
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