Evidence, collaboration and translation
Turning evidence, lived experience and collaboration into better rare condition care.
Rare Diseases NSW connects people with lived experience, clinicians, researchers, health services and community partners to address shared challenges across rare and undiagnosed conditions.
Our projects and wider research network span diagnosis, inclusive health care, family support, clinical research, precision medicine, implementation and health-system improvement.
Projects and programs
Explore work led by Rare Diseases NSW and projects, collaborations and research programs across our wider network. Use the search and topic filter to find work most relevant to your interests.
9 projects and programs shown
Genomic equity research program
A research program working with underserved communities to understand and reduce inequities in access to timely, culturally safe genomic diagnosis and care in New South Wales.
Evidence translation project
An evidence-translation project developing practical, strengths-based guidance for clinicians supporting families of children with developmental and epileptic encephalopathies, from diagnosis through ongoing care.
Inclusive research program
An inclusive program working to improve genetic and broader health care with people with intellectual disability. Its projects bring together people with disability, researchers, health professionals and educators.
Inclusive transition research project
An inclusive research project co-designed with young people with intellectual disability to improve the move from children’s to adult health care. The project forms part of GeneEQUAL.
Multidisciplinary research program
A multidisciplinary research program using clinical research, precision medicine, biomarkers, newborn screening and clinical trials to improve outcomes for children with rare and complex neurological conditions.
Guideline and implementation program
Guidelines and implementation resources for Australia and New Zealand covering screening, diagnosis, assessment, treatment and family support after a newborn screens positive for spinal muscular atrophy.
Translational research laboratory
A translational research program using airway and gut organoids, molecular profiling and functional drug testing to support more individualised treatment for people with cystic fibrosis, including ultra-rare CFTR variants.
Implementation science program
An implementation science program that identifies barriers between evidence and practice and co-designs strategies to support the adoption and sustained use of effective care in real-world settings.
Genetic epilepsy research collaboration
A collaborative genetic epilepsy and neurogenetics program bringing together families, clinicians and researchers to improve diagnosis, develop tailored treatments, create resources and support psychological wellbeing.
Try a different project name, condition or research area, or clear the search to view all projects.
Some projects are led by Rare Diseases NSW, while others are collaborations or programs across our wider network. Links to partner and external project websites open in a new tab.
Work with us
People living with rare or undiagnosed conditions, families, health professionals, researchers and organisations can contribute to research in different ways—from sharing lived experience to developing new collaborations.