Here at Rare Diseases NSW we know research is critical to improve care. But that good research must partner with those with lived expertise – people living with rare conditions – right from the start.
Our research covers everything from getting a diagnosis, to improving care and support, to making sure no one gets left behind.
Have a look through the projects below — if something interests you or your family, let us know and we’ll be in touch.
We’re also building more opportunities for our community to help shape the future of rare disease care and research.
Watch this space — and sign up to stay informed about upcoming ways to get involved.
Working with siblings of children with rare epilepsy to create support resources.
Maddison Smith; Dr Lauren Kelada
A tool for rare or undiagnosed patients to share their medical history and care needs.
Nika Kulaweera
To achieve a fair chance of getting a genetic diagnosis for all.
Dalia Metwally
Making high quality rare disease care accessible and equitable.
Krista Recsei
Digital technologies to connect people living with rare diseases across NSW.
Kristine Pierce
Help more children get a diagnoses and make sure families get well-coordinated care.
Dr Lisa Ewans
Support people to find, understand, and use information about their condition.
Natalie Roberts
Our research and clinical programs are supported by the Australian Government Department of Health, Disability and Ageing; Maridulu Budyari Gumal, the Sydney Partnership for Health, Education, Research and Enterprise (SPHERE); the Medical Research Future Fund; the National Health & Medical Research Council; NSW Health; and the Thompson Family Foundation.
We gratefully acknowledge this support, which enables us to work in partnership with people living with rare conditions to improve diagnosis, care, navigation and long-term outcomes for rare disease families across NSW.