Genetic Support Network of Victoria (GSNV)

19/08/2025

It was a privilege to see the Genetic Support Network of Victoria (GSNV) CEO Monica Ferrie contribute as a panellist at the recent Conference ensuring the community voice was strongly represented across critical conversations on:

- Artificial Intelligence in genomics

- Governance frameworks

- Data consent and privacy

- The evolving genomics ecosystem

The inclusion of community perspectives alongside clinicians, researchers, and policymakers highlights the importance of partnerships where transparency, equity, and consent are not just aspirations, but guiding principles.

We are proud that the GSNV continues to champion these values, ensuring that people living with genetic and rare conditions have their voices heard at the highest levels of decision-making.

Syndromes Without A Name - SWAN Australia Genetic Alliance Australia

30/07/2025

STUDY PARTICIPANTS WANTED: Understanding the Role and Engagement of People with Disabilities in Genomics Research

The purpose of this study is to understand how people with disabilities and their families perceive their role and meaningful engagement in genomics research, and what are the barriers and facilitators to such engagement.

What does it involve?
This study involves semi-structured individual interviews with people with disabilities and their family members conducted over Zoom for approximately 60 minutes.

Who are we asking?
We are looking for Individuals who identify as having a disability associated with a genetic condition as well as family members with a role in the care and support of such individuals. Participants must be 18 or older, have the capacity to provide informed consent and be able to communicate in English, either directly or through a support person.

Participant Contribution and Benefits
Each participant in this study will receive a $50 gift voucher. Participants will help to generate knowledge and understanding, which will be used to support genomics researchers to better engage people with disabilities in future research.

Who is conducting the study?
The study is conducted by Radostina Breedt – PhD candidate at The University of Queensland, under the supervision of Professor Karen Nankervis, Professor Rhonda Faragher, and Dr Maria Vassos. This study adheres to the Guidelines of the ethical review process of The University of Queensland and the National Statement on Ethical Conduct in Human Research [Ethics ID number: 2025/HE000717].

For questions related to this study, please contact Radostina Breedt on r.breedt@student.uq.edu.au

21/07/2025

📍 DON'T miss this event

In May the adopted the first-ever Resolution on Rare Disease.

On Thursday 24 July join Rare Disease International Council Member Monica Ferrie and CEO of the Genetic Support Network of Victoria (GSNV) as she presents the key outcomes and impacts of the resolution for our local community.

Sharing insights into this global and historic milestone we gain a deeper understanding of the positive impact the resolution calls for such as:

✅ Equitable access to diagnosis, care, and social inclusion
✅ Integration of rare diseases into Universal Health Coverage
✅ A WHO-led 10-year Global Action Plan for rare conditions

Find out how global actions on rare disease can positively impact your advocacy here in Australia.

REGISTER NOW: https://events.humanitix.com/rarenet-july-forum

Join us to discuss what the recent adoption of at the 78th World Health Assembly means for us, the rare disease community, and its impacts!

09/07/2025

Join us for RareNET July Forum:
- what does it mean, and how does it affect us?

📌 Thursday 24 July 2025
📌 12 pm-1 pm AEST
📌 Via TEAMS
📌 Register: https://lnkd.in/grT9Harc

The United Nations General Assembly Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families” (Resolution on PLWRD) was first presented in 2021. This first Resolution on represented a major shift in the global policy landscape, promising greater integration of rare diseases in the agenda and priorities of the UN system.

Since then, with the tireless work of our community representatives such as Rare Disease International (RDI), the has been adopted at the 78th World Health Assembly in May 2025!

The adoption of this Resolution by WHO Member States marks a powerful step forward in ensuring equity, visibility, and inclusion for the 300 million people living with a rare disease around the world.

We invite you to attend RareNET July, where Monica Ferrie (GSNV CEO and Board Member, RDI) will bring this news to light and open the conversation to us, the community, and what this means for us.

We look forward to seeing you there!






Genetic Alliance Australia Syndromes Without A Name - SWAN Australia

Join us to discuss what the recent adoption of at the 78th World Health Assembly means for us, the rare disease community, and its impacts!

12/06/2025

A message to the Genetic and Rare Disease Community:

The Science Within Us is a valuable education resource for Australian students to learn about genetics, diversity, and inclusion in a powerful new way.

Proudly co-designed with genomics and education experts and grounded in real lived experiences from our rare disease community this free resource helps to

🛎 Encourage the understanding and inclusion of genetic and rare disease in the classroom.
🛎 Promote the value of lived-experience across curriculum resources
🛎 Empower our genetic and rare disease community through understanding of our diversity
🛎 Encourage the next generation to explore career pathways in the field of genomics

Let’s put The Science Within Us in the hands of every teacher across Australia and build a more informed, inclusive future!

Share this link with your child’s teacher today:
👉 www.thesciencewithinus.org.au

Cystic Fibrosis Australia Thalassaemia & Sickle Cell Australia Syndromes Without A Name - SWAN Australia Genetic Alliance Australia Australian Sickle Cell Advocacy
Spinal Muscular Atrophy Australia Inc.

04/06/2025

In 2023, the Genetic Support Network of Victoria (GSNV) was the proud recipient of the Healthy Trajectories seed funding to develop the pilot of our digital learning resource The Science Within Us (SWU).

Read more from Project Lead Hollie Feller on the development of SWU, its co-design with young people living with rare disease and the power of human stories to educate and build the genomic literacy of Australian students.

💡Share this valuable platform with your primary and secondary schools visit www.thesciencewithinus.org.au to learn more.

Read the Healthy Trajectory Update here:
https://lnkd.in/g3Ap4mhy

A digital learning resource exploring our genetic identity. For Teachers For Students For Teachers Our program encourages critical thinking and open dialogue, equipping students with the skills to navigate complex issues surrounding genetic information with full support for their educators. Explore....

05/05/2025

Introduce your students to the science and real-world impact of genetics – a fascinating area of human health.

The Science Within Us is a FREE digital program tailored for Years 5–10 designed to:
🧬 Help students understand genetic and rare diseases
🧬 Align with science, health & humanities curriculum
🧬 engage students through a safe and easy to use online platform

Explore this FREE resource today visit thesciencewithinus.org.au

01/05/2025

The Science Within Us is a curriculum-aligned digital resource designed for Australian primary and secondary schools.

Help your students explore genetics, diversity, and health literacy through engaging storytelling and real-world science.

This free resource:
• Supports interdisciplinary teaching in science, health and humanities
• Builds understanding and inclusion
• Opens STEM career pathways

Watch the trailer below and sign up to access this FREE resource at thesciencewithinus.org.au

02/04/2025

🌿 Strengthening the Rural Health Consumer Advisory Group – Seeking New Members! 🌿

We’re building our Consumer Advisory Group (CAG) and inviting new members to join our existing team. This group ensures that rural families' voices directly inform policy, advocacy, and healthcare improvements in paediatric services.

📣 Who Can Join?
We welcome individuals with firsthand experience in rural paediatric healthcare, including:
✅ Parents or guardians navigating the healthcare system for their child
✅ Young people/adults accessing care themselves
✅ Siblings who witness or share in the journey
✅ Grandparents with insights into healthcare challenges

💡 Why It Matters
Rural families face unique barriers in accessing healthcare. By sharing their experiences, members help drive real change in how services are designed and delivered.

🕒 Time Commitment
Quarterly online meetings (1 hour each)
Flexible opportunities for deeper engagement
Reimbursement provided for time and contributions

Please note: First Meeting April 8th 1-2pm

📝 Consent & Impact
To ensure feedback is effectively used in policy advocacy and healthcare improvements, participants will be asked to sign a consent form allowing us to record discussions and integrate insights into research and policy work.

🔗 How You Can Help
Know someone who might be interested? Please share this post or tag them!

Register here: https://lnkd.in/gVAcgZVQ

💙

This link will take you to a page that’s not on LinkedIn

25/03/2025

Introducing SWAN Cobbers, a new support group specifically for Dads and Father Figures of children with undiagnosed or rare genetic conditions.

Join Syndromes Without A Name - SWAN Australia and their kick off event:

⏰Date: Sunday, 6th April 2025
Time: 2:00 PM – 5:00 PM
Location: Cranbourne Scout Hall, Cranbourne, 3977
Cost: FREE (BBQ & nibbles provided)
Register here: https://rb.gy/9aw3s4

🎈Who is this for?
This event is open to all Dads, Step-parents, Grandfathers, Uncles, and male carers of children with undiagnosed or rare genetic conditions.

🎈Why attend?
Connect with other Dads who "get it"
Learn ways to use adaptive technology for fun and bonding
Take home practical tips and activities to support your family
Enjoy a relaxed, supportive environment with great company

This event is proudly supported by City of Casey, David Hawkins, and SWAN Australia.

25/03/2025

Don't miss RareNET March Forum as we explore how partnership with University of Melbourne Master of Genetic Counselling/Master of Genomics and Health Programs students can help build the evidence needed to strengthen support group advocacy and achieve meaningful outcomes.

On Thursday 27 March Join A/Prof Sharon Lewis, Senior Research Officer at MCRI and Research Coordinator of both Masters programs will share recent case studies and practical insights on:

💡 How research partnerships can amplify your advocacy efforts
💡 What to expect when working with student researchers
💡 Key steps, timelines, and support available to get started

Register and find out more about this free workshop below

GUARD Collaborative RareNET

24/03/2025

Diagnostic pitfalls and differential diagnosis of Wilson Disease

This ERN RARE-LIVER Webinar on 15 April 2025 at 5pm (CET) will be a joint webinar with The Children’s Memorial Heath Institute (Poland), Hôpital Femme Mère Enfant (France) and Aarhus University Hospital (Denmark).

Please use this link: https://uke-de.zoom-x.de/j/65289423694?pwd=nyvXTTvE9qt1dtVgyVmQ9R3ljTFMbR.1

Speakers:

Piotr Socha, The Children’s Memorial Heath Institute (Poland)

Eduardo Couchonnal, Hôpital Femme Mère Enfant (France)

Chair:

Thomas Sandahl, Aarhus University Hospital (Denmark)

Agenda:

The major challenge for primary care physicians and experts is making diagnosis of Wilson disease. Genetics helps but access to molecular diagnosis is limited to cases after selection based on biochemical findings and acute liver failure requires immediate diagnosis. There is also risk to confuse WD with AIH. Therefore, presentation of diagnostic approach for chronic and acute liver disease should be discussed. We propose short presentations and panel discussion. The webinar will discuss:



Diagnostic challenges in WD
Pediatric difficulties
False positives and False negatives
Atypical clinical presentations
Genetics and Wilson disease
Differential diagnosis

Please note: The webinar will be held via Zoom and will be recorded. As a participant, please remain muted during the presentation to make sure the recording is not disturbed. There will be a dedicated part of the webinar for discussion.

By participating in the meeting, you agree to the recording.

In case of questions or technical problems, please send an email to ern.rareliver@uke.de.