About Rare Diseases NSW

Care. Connect. Cure. Building a more connected future for rare disease

Rare Diseases NSW is the statewide platform connecting care, research, lived experience and system change for people living with rare and undiagnosed conditions.

We bring together patients and families, clinicians, researchers, health services, government, industry and community organisations to address shared challenges, strengthen collaboration and improve outcomes.

Discover who we are

Who we are

Building the future of rare disease care

Rare Diseases NSW has evolved from a network of committed experts into an established statewide platform connecting people, capabilities and organisations across healthcare, research and the community.

Rare Diseases NSW

A collaborative initiative with a statewide purpose

Rare Diseases NSW is a collaborative initiative of UNSW Sydney, our administrative institution, and Sydney Children’s Hospitals Network.

We were established to develop a research-enabled, comprehensive Centre of Expertise for people living with rare and undiagnosed conditions.

Our goal is to become an internationally recognised Centre of Expertise that provides coordinated, person-centred care across the lifespan while accelerating diagnosis, strengthening care pathways, supporting access to emerging therapies and clinical trials, building workforce capability and translating research into improved health outcomes.

Our role today

  • Connecting expertise across health, research, government, industry and the community
  • Supporting collaboration around shared rare disease priorities
  • Translating evidence and innovation into practical improvements
  • Developing scalable models that address fragmentation and improve equity

Why we exist

Rare diseases are individually uncommon, but the challenges are shared

People living with rare and undiagnosed conditions often experience similar barriers, regardless of diagnosis. Rare Diseases NSW focuses on the common challenges that affect individuals and families across the rare disease journey.

Long diagnostic journeys

Many people spend years searching for answers, seeing multiple specialists and undergoing repeated investigations before receiving a diagnosis.

Fragmented care

Care is often spread across multiple providers, hospitals and systems, leaving individuals and families to coordinate services themselves.

Limited access to expertise

Specialist knowledge, clinical trials, research opportunities and coordinated pathways can be difficult to identify and access.

Inequitable outcomes

Geography, disability, cultural barriers and socioeconomic factors can create additional obstacles to diagnosis, care, research and support.

What makes us different

We connect people, expertise and systems

Rare Diseases NSW was created because no single organisation can solve rare disease challenges alone. Our value lies in bringing together expertise, lived experience and implementation capability to drive change across the entire rare disease ecosystem.

Cross-sector collaboration

We bring together clinicians, researchers, health services, patient organisations, government, universities, industry and people with lived experience around shared priorities and practical solutions.

Research-enabled care

Our position across healthcare and academia enables us to connect discovery, translational and implementation research with frontline clinical care and system improvement.

Lived-experience leadership

People living with rare and undiagnosed conditions and their families help shape priorities, services, research, resources and evaluation through genuine partnership and co-design.

Implementation and system change

We focus on turning evidence and innovation into practical models, partnerships and infrastructure that can improve outcomes across New South Wales and beyond.

Our contribution

Building the foundations for lasting change

Rare Diseases NSW has focused on developing the infrastructure, partnerships, programs and communities needed to improve outcomes for people living with rare and undiagnosed conditions.

National leadership

Contributing to Australia's National Strategic Action Plan for Rare Diseases and supporting implementation of nationally significant rare disease priorities.

National Recommendations

Helping co-design Australia's National Recommendations for Rare Disease Health Care and supporting their adoption across the health system.

RarePower

Embedding lived expertise in research, decision-making, service design and system improvement.

Community of Practice

Connecting clinicians, researchers, community organisations, policymakers and people with lived experience to share knowledge and solutions.

Navigation and care coordination

Supporting the development of practical tools, pathways and coordination approaches that help families navigate complex systems.

Rare disease innovation

Advancing initiatives such as the Rare Disease Passport, My Rare Mate, Rare Disease Day and future Centres of Expertise.

Our vision

A future where no family is left to navigate rare disease alone

We are working towards an internationally recognised Centre of Expertise that brings together coordinated care, research, education, innovation and lived-experience leadership to improve outcomes for people living with rare and undiagnosed conditions.

Looking ahead

Building a comprehensive Centre of Expertise for New South Wales

Our long-term vision is a coordinated, research-enabled system that provides person-centred care across the lifespan, accelerates diagnosis, strengthens care pathways, improves access to advanced therapeutics and clinical trials, builds workforce capability and translates innovation into better health outcomes.

Faster diagnosis Connecting genomic, clinical and research expertise to shorten diagnostic journeys.
Coordinated care Supporting people across childhood, adulthood and major healthcare transitions.
Clinical trials and therapies Increasing access to innovation, advanced therapeutics and emerging treatments.
Workforce capability Growing rare disease knowledge, education and clinical expertise.
Lived-experience leadership Ensuring people with lived experience remain central to design and decision making.
Equity Improving access to support, expertise and innovation regardless of location or circumstance.

Our ambition is not simply to improve individual services. It is to help create a connected rare disease ecosystem where care, research, education and community leadership work together as one system.

How we work

The principles that guide us

Our work is grounded in partnership, evidence, innovation and a commitment to ensuring that people living with rare and undiagnosed conditions remain at the centre of everything we do.

Care

Supporting person-centred approaches that recognise the whole individual, family and community.

Connect

Bringing together people, organisations and expertise to create stronger pathways and partnerships.

Cure

Supporting research, innovation and translation that improve lives today while advancing the treatments of tomorrow.

Co-design

Working alongside people with lived experience as equal partners in design, governance, implementation and evaluation.

Equity

Striving to ensure access to care, expertise, research and opportunity regardless of diagnosis, location or circumstance.