About Us

Our Mission

To support the holistic health needs of children and adults living with a rare disease, and their families. To enable them to achieve their best possible health and wellbeing outcomes.

Our Vision

Rare Diseases NSW will be internationally recognised as a leading centre of expertise that provides comprehensive, integrated rare disease health care, underpinned by world leading research, education, training, and advocacy. It will accelerate the discovery of underlying causes and novel therapies which will be rapidly translated into healthcare to improve the health outcomes of all individuals living with a rare disease in an equitable, culturally appropriate, and person-centred way.

Our Current Progress

While we work towards establishing a comprehensive centre that unites fragmented rare disease activities across New South Wales, we currently operate as an informal network of experts based at the Randwick Health and Innovation Precinct.

Committed to supporting people living with rare diseases, we share knowledge to promote research, education and evidence-based best practices and advocate for continual improvement of services for the communities we serve.

Our model of care

NSW Rare Diseases Research-Enabled Model of Care

Comprehensive care for rare disease

Rare diseases are often chronic, complex conditions that require expert multidisciplinary teams of health professionals across the patient’s lifetime. 

NSW Rare Disease will be physically based at the Randwick Health and Innovation Precinct but will provide support to all children and adults with a rare disease in NSW using novel models of clinical care such as care coordination (kidsGPS) and telehealth (Virtual Kids). We will take a patient journey lens to the care provision by ensuring:

  1. Timely access to a diagnosis by leveraging our genomic research pathways including the GeneAdd Undiagnosed Disease Program and leadership in the national Undiagnosed Disease Network Australia and the Undiagnosed Disease Network International
  2. Improved care navigation and rare disease care coordination, including facilitation of seamless transition between paediatric and adult services, by leveraging our expertise in the Commonwealth funded Rare Disease Navigator Project (one of two pilot sites in Australia) and health literacy programs such as GeneCOMPASS.
  3. Enhanced access to novel therapies, leveraging existing expertise in advanced therapeutics such as our leadership in life-saving gene-based therapies for rare conditions such as spinal muscular atrophy.
  4. Facilitation of ground-breaking research and clinical trials by leveraging the world leading research of our partner universities and medical research institutes.
  5. Enhanced education, support and raised awareness by leveraging our Commonwealth-funded RArEST (Rare Disease Awareness, Education Support and Training) project.
  6. Integration with primary health care, adult health services, and other key health partners.
  7. Increased capacity through training tomorrow’s health and medical research workforce in rare disease.
  8. Raised local and national awareness of rare diseases by capitalising on the educational and advocacy activities of our RArEST project.
  9. Optimised wrap-around person and family-centred care that is culturally appropriate and trauma-informed by embedding co-design across all elements. We will continually partner with people living with rare disease and put the individual with rare disease at the centre of everything we do.