Event archive

Rare Disease Day 2025 How You Can Shape the Future of Rare Disease

Two days of lived experience, learning, connection and ideas for improving rare disease care.

Rare Diseases NSW brought together people living with rare conditions, families, health professionals, researchers, students, educators, scientists and community organisations across two special events.

Together, participants shared knowledge, experiences and practical ideas for creating more informed, inclusive and connected rare disease care.

Explore the event Watch recorded presentations

Event overview

Two days, one shared purpose

Rare Disease Day 2025 created two complementary spaces: a Clinical Day focused on education, research and better care, followed by Imagine More, a family-friendly day centred on stories, connection and community. Both events sold out.

  • Two sold-out days Clinical learning followed by community connection.
  • Lived experience centred People and families shared experiences and priorities.
  • Care and community Clinical knowledge connected with community expertise.
  • Diverse participation Families, clinicians, students, educators and scientists.
Day one

Clinical Day

Friday 28 February 2025

A day of lived experience, clinical education, translational research, health services and ideas for improving rare disease care.

The day brought together

  • Talks from people living with rare conditions and family members
  • Clinical services, educational resources and research programs
  • Health professionals, researchers, students, educators and scientists
Clinical focus: sharing practical knowledge while connecting research, services and lived experience around better care.
Day two

Imagine More

Saturday 1 March 2025

A family-friendly community day celebrating people, connection, creativity and the collective strength of the rare disease community.

The day created space for

  • Family and community stories led by lived experience
  • Practical resources, services and support organisations
  • Connection, creativity and participation for people of different ages
Community focus: helping people feel seen, heard, connected and supported within the wider rare disease community.

Lived experience

Lived experience at the centre

The voices of people living with rare conditions and their families were central to Rare Disease Day 2025. Their experiences grounded conversations about clinical care, community connection, research and the support people need to live a good life.

Featured voice

Charli Kamper

Living with a 22q chromosomal condition

What Charli shared

Charli spoke during the Clinical Day about how she wants clinicians to work with her. Her contribution brought a direct lived-experience perspective to conversations about communication, respect and partnership in clinical care.

Core message Work with people living with rare conditions as active partners in their care.
Family perspective

Giovi Moschoudis

Co-founder, Angelina CASK Neurological Research Foundation

What Giovi shared

Giovi shared her family’s rare-condition journey with her daughter Angelina, who lives with a CASK-related condition. She spoke about how important connection with other families and the wider community has been.

Core message Connection with other families and community can be a vital source of understanding and strength.
Community building

Kym Gleeson

Founder, The Frankie Foundation; Co-founder, Acrodysostosis Support and Research

What Kym shared

Kym spoke about the communities she is helping to build so her daughter—and others living with rare and complex conditions—can be appropriately supported to live a good life.

Core message Strong communities help people and families move beyond isolation toward support, opportunity and a good life.

Program highlights

Resources, education, care and research

Across the two days, speakers introduced community services, practical education, clinical resources, research programs and emerging models of care. Together, these presentations showed how lived experience, clinical practice, research and health-system improvement can inform one another.

Community

Resources and services

Trusted organisations, information and support pathways for people living with rare conditions and their families.

Education

Clinical learning resources

Recommendations, shared learning and introductory rare disease education for healthcare professionals.

Innovation

Clinical services and research

Genomics, registries, advanced therapies, inclusive research, precision care and emerging service models.

Community resources

Information, support and connection

The program profiled organisations and services that help people and families find trustworthy information, peer connection, advocacy and practical support.

Genetic Alliance Australia

A peak umbrella organisation supporting people with rare genetic conditions, including people whose condition is too rare to have its own support group.

Belongside Families

Formerly known as Kindred, this independent, family-led not-for-profit supports families raising children with disability, developmental delay and autism across New South Wales.

The RARE Portal

The Rare Awareness Rare Education Portal provides current, reliable and straightforward information and resources about rare disease.

The RARE Helpline

A service providing timely access to information and responses to questions commonly faced by people living with rare and complex conditions.

Clinical education

Resources for more informed rare disease care

Speakers introduced national recommendations and learning opportunities designed to help healthcare professionals recognise rare disease needs and provide better coordinated care.

National Recommendations for Rare Disease Health Care

Written to help health professionals provide quality care for people with diagnosed rare conditions and people who have not yet received a diagnosis.

The Recommendations align with the Australian Government’s National Strategic Action Plan for Rare Diseases.

Rare Diseases NSW Community of Practice

A shared-learning community bringing together people with lived experience, families, clinicians, researchers, advocates, policy makers and health-system leaders.

The Community of Practice supports connection, collaboration and practical learning across the rare disease community.

Rare Diseases 101 Australia

A free eLearning module introducing healthcare professionals to rare conditions and how they can best care for individuals and their families.

Designed as an accessible starting point for professionals across disciplines and care settings.

Clinical services & research

Transformative work across the precinct and beyond

The program offered a glimpse of clinical services, translational research and emerging models of care across the Randwick Health and Innovation Precinct and collaborating institutes.

Therapies

Professor Michelle Farrar

Brain Aid, advanced therapies and SMA screening

Shared the Brain Aid project, the Sydney Children’s Hospitals Network Advanced Therapies Handbook and work supporting equitable newborn screening and therapies for spinal muscular atrophy.

Registry

Dr Laura Yeates

Genomics of Rare Disease Registry

Introduced a national registry aiming to improve understanding of rare inherited conditions and connect families with new research opportunities.

Inclusive

GeneEQUAL Inclusive Research Team

Skie Sarfaraz, Professor Iva Strnadová and Dr Emma Palmer

Shared an inclusive research program co-produced with people with intellectual disability.

Clinical

Professor Carolyn Sue

Australian Mitochondrial Disease Centre

Presented the work of Australia’s largest mitochondrial disease clinic, which reviews and accepts patients from every state and territory.

Health care

Dr Seeta Durvasula

National Centre of Excellence in Intellectual Disability Health

Introduced a consortium of nine organisations contributing to the Australian Government’s National Roadmap for improving the health of people with intellectual disability.

Genomics

Dr Emily Oates

UNSW Medical Genomics Group

Shared the group’s work in rare genetic neuromuscular and neurological conditions affecting the brain, spinal cord, nerves and muscles.

Model of care

Dr Lisa Ewans

Gene2Care

Introduced a co-designed genomic healthcare model incorporating the GeneSTART rare disease registry and the GeneAdd undiagnosed disease program.

Precision

Associate Professor Natalie Taylor

Precision Care Initiative

Described an integrated specialist model combining molecular multidisciplinary review, a national clinical network, implementation research and a learning health system.

Priorities

Dr Eden Robertson

Inherited retinal disease research

Presented Australia’s first priority-setting partnership for inherited retinal conditions and work exploring novel stem-cell therapies, community perspectives and decision support needs.

Cancer

Paulette Barahona

Zero Childhood Cancer

Shared the journey of the national program for children and young people aged 0–16 with cancer, including its use of tumour targets to inform personalised treatment recommendations.

Recorded presentations

Revisit Rare Disease Day 2025

Watch recorded presentations from both days of Rare Disease Day 2025—from the Rare Disease Symposium to our family-friendly Imagine More community event.

Featured Day 1 presentation

Play directly on this page

Day 1 recordings

Rare Disease Symposium

Friday 28 February 2025

Revisit presentations from the Rare Disease Symposium, bringing together people with lived experience, clinicians, researchers and sector leaders to share knowledge, experience and approaches to improving rare disease care.

Across the symposium

  • Lived experience and person-centred care
  • Clinical practice, research and innovation
  • Building better systems for rare disease
Watch the full Day 1 collection

Opens the Rare Disease Symposium collection on Vimeo in a new tab.

Featured Day 2 presentation

Play directly on this page

Day 2 recordings

Imagine More

Saturday 1 March 2025

Watch presentations from the family-friendly Rare Disease Day event that brought together people living with rare conditions, families, health professionals and the wider community to connect, share experiences and imagine a more inclusive future.

Across Imagine More

  • Community and family stories
  • Lived experience, connection and peer support
  • Practical resources and ideas for positive change
Watch the full Day 2 collection

Opens the Imagine More collection on Vimeo in a new tab.

Photography

Celebrating the people behind Rare Disease Day

Award-winning photographer Rick Guidotti joined both event days to share the work of Positive Exposure and photograph members of the rare disease community. His work celebrates human diversity and challenges the way genetic, physical, behavioural and intellectual differences are represented.

Smiling portrait of the photographer whose quote appears beside the image

A favourite message from Rick

Look at YOU, you’re magnificent!

Rick Guidotti, founder of Positive Exposure

Positive Exposure

Photography grounded in positivity and strength

Rick’s photographs and presentations invited participants to see human diversity through a more affirming lens. His contribution helped ground Rare Disease Day 2025 in visibility, connection, positivity and strength.

Learn about Rick’s work

Rare Disease Day 2025 photo gallery

These photographs celebrate some of the people, families and moments that made the Imagine More community event so special.

Select any photograph to view it at full size

When a photograph is open, use the Previous and Next buttons or the left and right arrow keys to move through the gallery.

Photography: Rick Guidotti , Positive Exposure.

Expanded Rare Disease Day 2025 photograph

1 of 20
Photo: Rick Guidotti , Positive Exposure.

Use the left and right arrow keys to move through the gallery. Press Escape to close.

Thanks & acknowledgements

Thank you for making Rare Disease Day 2025 possible

The two Rare Disease Day events were made possible by the people, organisations and communities who contributed their funding, expertise, lived experience, time, creativity and support.

Event funding

With thanks to our funders

Financial and organisational support from these five organisations helped Rare Diseases NSW deliver the Clinical Day and Imagine More.

Rare Diseases NSW

Event host, organiser and funder.

UNSW Sydney

Event funding and institutional support.

22q Foundation Australia & New Zealand

Community funding and support for the event.

Genetic Alliance Australia

Funding and community support for Rare Disease Day 2025.

SATB2 Connect

Funding and community support for the two-day program.

Opening & executive support

Leadership across both event days

Senior health leaders helped open the two events and welcomed participants into the Rare Disease Day program.

Day one opening

Dr Kim Sutherland

Helped open the Rare Disease Day 2025 Clinical Day.

Day one opening

Adjunct Associate Professor Paula Bray

Helped open the Rare Disease Day 2025 Clinical Day.

Day two opening

Adjunct Associate Professor Cathryn Cox PSM

Opened Imagine More and delivered the Acknowledgement of Country.

Our community

Thank you to everyone who brought the events to life

Both days were shaped by the knowledge, generosity and participation of people from across the rare disease community.

People and families

Thank you to the people living with rare conditions and family members who shared their experiences, insights and hopes for better care.

Speakers and presenters

Thank you for sharing clinical knowledge, research, resources, services and practical ideas across the two days.

Volunteers

Thank you to everyone who gave their time and energy to help welcome participants and support event delivery.

Attendees

Thank you for listening, learning, asking questions, making new connections and contributing to both sold-out event days.