GeneEQUAL

26/02/2026

GeneEQUAL Publication Update

The GeneEQUAL team is excited to share our latest open access publication in the European Journal of Human Genetics:

"It was up to me to be curious": perceptions and experiences of students with intellectual disability on genetics and health education.

Led by the incredible Jennifer Hansen, this research explores how students with intellectual disability experience learning about genetics and health. We found that many high school students are not being taught about genetics, health literacy, or how to make informed healthcare decisions — and they feel this gap deeply. Some told us schools had “failed” them in preparing them to understand their own health and navigate the healthcare system.

Importantly, students didn’t just share their frustrations — they offered thoughtful, practical recommendations for how education can better support them. Their insights are a powerful reminder of why inclusive, accessible health education matters, and why listening to young people’s voices must be central to change.

You can read the article here:
https://www.nature.com/articles/s41431-026-02041-w

24/02/2026

GeneEQUAL people - meet the team!
Part 2: Julie Loblinzk Refalo OAM

Julie Loblinzk Refalo OAM is an Adjunct LecturerResearch Fellow in the School of Education at UNSW Sydney, where she co-designs and co-produces research that creates meaningful impact for people with intellectual disability. Her work brings new knowledge to the field and encourages more inclusive approaches across education and community settings.

Julie is committed to sharing her insights widely. She publishes journal articles, presents at conferences, and writes on her blog Disability & Me. She also guest lectures in BA/BEd and Master of Education (Special Education) programs, helping future educators understand the importance of inclusion and self‑advocacy.

Julie serves as a Board MemberPresident of Self Advocacy Sydney. As a respected self‑advocate with lived experience of intellectual disability, she has spent many years supporting others to speak up, build confidence, make their own choices, and live full lives in the community. One of the first self‑advocates in New South Wales, Julie has played an influential role in shaping the self‑advocacy movement. Her leadership, industry knowledge, and strong community connections continue to create lasting impact.

Julie is passionate about person-centered approach to supporting people with intellectual disability.

19/02/2026

Rare Disease Day 2026: Care Connect Cure

We’re delighted to invite you to Rare Disease Day 2026: Care Connect Cure, a special multi-day event bringing together people living with rare disease, families, clinicians, researchers, students and partners from across NSW and beyond.

📍 Where: UNSW Health Translation Hub, Randwick Health & Innovation Precinct
📅 When: 27–28 February 2026
💻 How: In-person and online
🎟️ Cost: Free to attend
🔗 Register via Humantix: https://events.humanitix.com/rare-disease-day-2026-care-connect-cure

We are delighted to welcome Rachael Callander, who will deliver a powerful keynote address, followed by a practical and reflective masterclass for healthcare professionals and families. Drawing on storytelling, lived experience and evidence-informed frameworks, Rachael challenges deficit-based narratives in healthcare and equips participants with compassionate, empowering communication strategies that reduce trauma and strengthen connection.

We are also pleased to announce Professor Krister Westlye Fjermestad, visiting from Norway, who will present on the SIBS intervention and its role in supporting the mental health and wellbeing of siblings of children living with chronic and rare diseases.

These national and international perspectives will sit alongside our outstanding local clinical and research leaders, as well as three adults living with rare conditions who will generously share their lived experience.

Across the two-day program, you will hear from people with lived experience, clinicians, researchers and advocates working to improve diagnosis, care and innovation in rare disease. The event will feature keynote presentations, panel discussions, interactive sessions and family-inclusive programming, with sessions tailored to engage diverse audiences across healthcare, research and the community.

Travel Bursaries Available
To help reduce barriers to attending in person, travel bursaries are available for people living in rural and regional NSW, including people living with a rare disease, parents, carers and family members, and healthcare professionals. These bursaries can help cover travel-related costs such as transport and accommodation.

If distance has previously made it difficult for you to attend events like this, we strongly encourage you to apply.

👉 Register for the event: https://events.humanitix.com/rare-disease-day-2026-care-connect-cure

👉 Find out more about travel bursaries: https://rarediseasesnsw.au/home/news/regional-nsw-travel-bursaries/

Whether you attend for a single session or across multiple days, in person or online, we would love to have you join us as we work together towards better care, stronger connections and future cures.

15/02/2026

Are you the sibling of a student with intellectual disability? We want to hear from you!

Are you interested in working together to develop a better model of inclusive, person-centred and respectful genetic health care? If so, get in contact with the GeneEQUAL team to organise a 30-to-60 minute interview to share your ideas and stories.

This study is for young people:
- with a sibling with intellectual disability
- aged 13-29
- who have attended or are currently attending high school in Australia for at least one full school year
- who are engaging or have engaged with a curriculum utilised by an Australian state and/or territory

Interviews can be:
- in person
- on the phone
- via video conference

Contact Kaitlyn Delaney to inquire:
Email: kaitlyn.delaney@unsw.edu.au
Phone: 0411877430

14/02/2026

💙 15 February — International Angelman Day 💙

Tonight, landmarks across Australia will light up blue to honour the incredible Angelman community and to raise awareness for this rare neurogenetic condition.

● Sydney: Art Gallery of NSW and Barangaroo Towers
● Canberra: National Museum of Australian Democracy (Old Parliament House), the National Carillon, and the National Museum of Australia
● Melbourne: AAMI Park, Rod Laver Arena, Margaret Court Arena.

Angelman syndrome is often diagnosed late, but early identification can change everything, giving families answers, support, and access to therapies when they matter most.

🌟 Today we celebrate the strength, resilience and joy of people living with Angelman syndrome.
🌟 And we stand with families advocating for earlier diagnosis and better support.

Wear blue, share this message, and help us spread awareness. 💙

12/02/2026

Do people use the internet to learn about their health?

Yes! Many people use the internet to find health information — including people with intellectual disability and their families.
A new study looked at more than 1000 free online health resources made for people with intellectual disability and their supporters. The review shows what information is out there, how easy it is to understand, and what is still missing.

Why is this important?

Health literacy means being able to:
✔️ Find health information
✔️ Understand it
✔️ Work out if it is good information
✔️ Use it to make decisions
Having good health literacy helps people understand their health and get the care they need.

What did the study find?

• Many resources are about tests, checks, physical health and mental health
• There are not many resources about sexual health, men’s health, or mental health for children and teens
• Most websites help people find and understand information, but not many help people use the information
• Most resources were made by non‑government organisations, especially from the UK

🔗 Read the study here: https://onlinelibrary.wiley.com/doi/10.1111/jir.70028

10/02/2026

GeneEQUAL people - meet the team!
Part 1: Dr. Emma Palmer

Emma co‑leads GeneEQUAL, a project working to make genomic testing and counselling more accessible and inclusive for people with intellectual disability. She’s passionate about ensuring people with lived experience help shape how genomic healthcare is delivered.

Alongside this work, Emma is an Associate Clinical Professor and Clinical Geneticist at Sydney Children’s Hospital. Her research is driven by what she sees every day supporting families with rare genetic conditions.

Her goal is simple but powerful: to improve the journey for the millions of people living with rare disease, always keeping patient and family voices at the centre.

08/02/2026

GeneEQUAL National Project Update

We’re excited to share an update on the GeneEQUAL National project, a five‑year initiative working to make genomic healthcare fairer and more inclusive for people with intellectual disability.

Many people with intellectual disability have shared that they often feel unsafe, unheard, or left out of decisions about their healthcare. GeneEQUAL is working to change this.

Since 2023, the team has been working with:
- People with intellectual disability (including Aboriginal and Torres Strait Islander communities)
- Families and support people
- Healthcare workers

Together, they’re co‑designing:
- A national plan for respectful genomic care
- Easy‑to‑understand resources
- Guidance to support autonomy and informed choice

With support from researchers, clinicians, disability advocates, community partners, and the NHMRC, GeneEQUAL National is helping build a future where genomic healthcare is truly inclusive and person‑centred.

05/02/2026

Online Event: Two years on from the Disability Royal Commission – People with Disability Australia

People with Disability Australia (PWDA) is holding an online event to talk about what’s happened two years after the Disability Royal Commission’s Final Report.

When: Tomorrow, 6 February 2026

Time: 12:00 pm – 2:30 pm Australian time

How? Online (everyone can join!)

This forum is a chance to:

• Hear from people with disability

• Talk about what’s improved — and what still needs to change

• Learn how the disability community is pushing for rights, inclusion, and safety

• Connect with others who care about creating a fairer Australia

People with disability Australia (PWDA) is run by and for people with disability, and this event is a safe and inclusive space for open conversation.

👉 Find out more and register: https://pwd.org.au/events/

17/08/2025

🏆✨ WE WON! People's Choice Award winners at the CPIR Awards!
So grateful to our incredible partners who make inclusive research possible 💙
Thank you to everyone with intellectual disability and the amazing organisations who've supported this journey:

Advocacy Sydney
for Intellectual Disability
Topics Queensland
Victoria

Julie said it perfectly: "This award shows that when researchers really listen to people with intellectual disability and work together, we can make health care better."

The future of research is inclusive, and we couldn't be more excited! 🚀

22/04/2025

Have you heard about the evaluation of our Toolkit to help improve healthcare for people with intellectual disability? Read about the GeneEQUAL successful model here:

Targeted clinician education is making genetic care more inclusive, says a new study.

09/03/2025

Exciting accessibility update! 🎉 Our team member Bronwyn recently visited the recording studio to create professional voice overs for our GeneEQUAL website. We're committed to making our inclusive, person-centered, and respectful work accessible for everyone - one recording at a time.