Genetic Alliance Australia

What would you change about the way genetic healthcare is delivered in NSW?

Have you or your family experienced genetic testing, genetic services, or the search for a genetic diagnosis?

Researchers from the University of Sydney, in partnership with The Patient Experience Agency and supported by Genetic Alliance Australia, are inviting people with lived experience of rare genetic conditions, and the families who support them, to help map the real-world genetic care journey across NSW.
Whether you've spent years searching for answers, waited for appointments or test results, navigated genetics services, or supported a loved one through the process, your experiences matter.

Supported by NSW Health, this project will use the insights of patients, carers and families to identify opportunities for improvement and directly inform ongoing work to strengthen the way people access and experience genetic testing, genetics services and genetic healthcare across NSW.
Because the people who use the system every day should help shape how it evolves.

📍 Online focus groups
💲 Participants reimbursed $40 per hour
📍 Open to eligible NSW participants

Your story could help improve the journey for future families.

Register your interest here:
https://sydney.au1.qualtrics.com/jfe/form/SV_5j6w5bT5cAUlfDg

Connection changes everything.

Every day, people contact Genetic Alliance Australia at some of the most uncertain moments in their lives.

They may be searching for a diagnosis, trying to understand a condition that few people have ever heard of, navigating uncertainty, or simply looking for someone who understands.

For more than 30 years, we've helped connect people living with rare, genetic and undiagnosed conditions to trusted information, support, community and each other.

We've seen firsthand the difference these connections can make.

For many individuals and families, connection can be the difference between navigating rare disease alone and navigating it with support, understanding and hope.

This End of Financial Year, please consider making a tax-deductible donation to support this work. Because connection changes everything.

Donate before 30 June: https://geneticallianceaustralia.raiselysite.com/

All donations above $2 are tax deductible

"You look fine."

Before you read any further, take 60 seconds to watch this trailer: https://youtu.be/J9qzJwj8O2s?si=9Juf4n89Q5hSYA4J

Created by filmmaker, comedian and sickle cell advocate J. Snow, *You Look Fine* is honest, funny, confronting and deeply human. It shines a light on the realities of living with sickle cell disease and challenges us to look beyond what we think we see.

And now it's coming to the Sydney Film Festival.

Ahead of World Sickle Cell Day (19 June), we're proud to support the Australian Sickle Cell Advocacy Inc - NSW Chapter team in sharing this powerful documentary and helping bring greater awareness to the lived experience of sickle cell disease in Australia.

We hope you'll watch it, share it, and if you're in Sydney, join us for a film that will make you laugh, cry, and see the world a little differently.

🎟️ Sydney Film Festival screenings
📍 Dendy Newtown Cinemas

• Sunday 7 June, 2:15pm
• Tuesday 9 June, 6:30pm

Tickets: https://www.sff.org.au/program/event/you-look-fine/

As Cri du Chat Awareness Month comes to a close, we wanted to send some love to the incredible team at the Cri du Chat Support Group of Australia Inc. 💙

This passionate community has worked tirelessly to build connection, understanding, advocacy and belonging for individuals and families living with Cri du Chat syndrome across Australia.

We’ve loved seeing their joyful “Let’s Get Stripy!” campaign helping spark conversations about inclusion, individuality and the strength of community.

Cri du Chat syndrome (5p- syndrome) is a rare genetic condition caused by a deletion on chromosome 5. Every person’s journey is unique, and awareness matters because understanding leads to earlier support, stronger inclusion and more connected communities.

Thank you to the Cri du Chat community for everything you do for families, and for the compassion and hope you bring to the rare disease community more broadly.

Please help us celebrate and amplify their work as Awareness Month wraps up 💙

Sharing this exciting work from Cure CASK Australia and collaborators exploring the potential of patient-derived organoids, or “mini brains in a dish”, to help transform rare disease research and therapy development.

For many rare conditions, one of the biggest challenges is the lack of accurate disease models to better understand what is happening biologically and to test potential treatments. Technologies like organoids are creating important new opportunities for more personalised and targeted research approaches.

Importantly, this also demonstrates the pivotal role rare disease organisations and families play in shaping and driving research forward!!!

Congratulations to Cure CASK Australia, The University of Queensland, the CASK Coalition, and the AMAZING families helping lead this important work forward. Giovi Moschoudis you inspire us! ❤

The power of organoids in speeding up lifesaving drug development Organoids are miniature tissue or organ models formed by stem cells (including pluripotent stem cells, tissue-specific adult stem cells, etc.) or progenitor cells in an in vitro three-dimensional culture system, which possess structural features and partial functions analogous to their corresponding...

We know many families across the rare condition and disability community are feeling anxious and uncertain about the proposed NDIS changes and what they may mean for their child and family.

Sharing this thoughtful and timely session for families from our friends Belongside Families. ❤

Many families are feeling the emotional toll of the proposed NDIS changes.

So much is being reported in the media. A lot of worrying information is being shared online. There are still many unanswered questions, and it may be some time before families know what these changes will mean for their child and family.

This kind of uncertainty is exhausting.

That’s why Belongside Families has invited psychologist Mitchell Woods from Mura Psychology to join us for a free webinar on Managing Stress & Uncertainty During NDIS Changes.

This session won’t provide advice on NDIS policy or funding. Instead, it will focus on practical strategies to help you manage ongoing stress, look after yourself, and navigate difficult periods when so much feels outside your control.

📅 Mon 25 May
🕗 8pm NSW time
💻 Online webinar
👤 For parents and carers of children with disability, developmental delay, Autism, rare and genetic conditions.
Professionals supporting children and families are also welcome.
🎥 Register to attend live or to receive the recording
🔗 Visit https://events.humanitix.com/infosession2505

SAVE THE DATE - Genetic Alliance Australia Annual Forum 2026
📍 NSW Parliament House
📅 16 September 2026
🕠 5:45pm

Hosted by Hon. David Harris MP, and supported by NSW Health, the GAA Annual Forum brings together a diverse community of people working to shape the future of rare, genetic and undiagnosed healthcare and support in Australia.

This year’s forum will again include our Research & Advocacy Showcase, highlighting innovative work, lived experience leadership, emerging research, and community-driven advocacy from across the sector.

If there’s a burning topic you would love to see explored at this year’s forum, or if you’re a researcher, clinician, advocate, support group leader, or community organisation interested in being part of the showcase, we’d love to hear from you. Please get in touch with us at [email protected]

We look forward to bringing the community together again for another important evening of connection, insight, and shared action.

🟦 RareNET May Forum | PreGen: Hearing Patient Voices 🟦

When prenatal ultrasounds identify unexpected findings, genomic testing can sometimes provide answers that were not previously possible.

🧬 Join us for our May RareNET Forum with the PreGen team, a national MRFF-funded program providing funded prenatal genomic sequencing across Australia.🧬

Featuring Professor Tony Roscioli and Dr Sarah Long this session will explore both the clinical advancements in prenatal genomics and the deeply human experiences behind the testing journey. Sarah will share insights from interviews with families undergoing whole exome sequencing, including the value families place on information, the impact of waiting for results, the role of genetic counselling, and the gaps families can encounter once they move beyond specialist services.

📆Thursday 21st May 12pm – 1pm (Online)

👉 Register now: https://events.humanitix.com/rarenet-may-2026-forum