Rare Disease Resources for Health Professionals and Families
national strategic action plan for rare diseases
The National Strategic Action Plan for Rare Diseases outlines principles and actions to bring about the best possible health and wellbeing outcomes for Australians living with a rare disease health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases
educational resources for health professionals
Orphanet orpha.net International web portal for rare diseases and orphan drugs. Provides disease summaries, clinical guidelines (if they exist), a support tool for diagnosis, current clinical trials. The portal is searchable by disease name, symptoms, gene etc
OMIM omim.org Online Mendelian Inheritance in Man: enables a comprehensive searchable database of genetic diseases which is searchable by phenotype, clinical features, gene etc
NORD rarediseases.org National Organisation for Rare Disorders: US based site with extensive information, tools and resources for clinicians, researchers and patients/carers
Centre for Genetics Education genetics.edu.au NSW Health web portal for health professionals and patients focused on genetic conditions; provides fact sheets and guidelines
Australian Genomics australiangenomics.org.au a national collaboration supporting the translation of genomic research into clinical practice
APSU apsu.org.au Australian Paediatric Surveillance Unit: study protocols, case definitions, published research and fact sheets for clinicians and patients/parents and carers
FASD Hub Australia fasdhub.org.au is a repository of evidence-based information on Fetal Alcohol Spectrum Disorder (FASD) for health professionals, parents/carers and other professionals. The resource includes a service directory, listings of all Australian publications, resources and research projects related to FASD
INoPSU inopsu.com International Network of Paediatric Surveillance Units: worldwide research on rare and uncommon paediatric infections and conditions: news, publications and information
Menzies School of Health Research rhdaustralia.org.au produces and maintains clinical practice guidelines and associated tools for acute rheumatic fever and rheumatic heart disease.
Rare Diseases NSW rarediseasesnsw.au A comprehensive centre of expertise transforming rare disease care in NSW and beyond. Grounded in patient-centred, collaborative care, through innovative diagnostic and therapeutic technologies and research partnerships. A network of experts dedicated to enhancing wellbeing of those affected by rare conditions across the whole lifetime.
peer support resources
Genetic Alliance Australia geneticalliance.org.au provides peer support and information for individuals and families affected by a rare genetic condition or rare disease; links patients and families with disease specific peer support groups
Rare Voices Australia rarevoices.org.au RVA is Australia’s national rare disease alliance supporting all people living with a rare disease, advocating for health policy and healthcare systems
Steve Waugh Foundation stevewaughfoundation.com.au provides support for children and young adults living with the rarest diseases through grants, respite camps, supporting research and raising awareness
RareConnect rareconnect.org/en a world wide platform for rare disease patients and families where they can connect and join or develop online communities across continents and languages
SWAN swanaus.com.au Syndromes Without A Name: Information and support for families with a child with an undiagnosed or rare genetic condition
NORD rarediseases.org National Organisation for Rare Disorders: US based site with information, tools and resources for patients/carers, clinicians and researchers
EURORDIS eurordis.org Rare Diseases Europe: Non-governmental world wide patient driven alliance
Other Resources
Creswick Report
Association for the Wellbeing of Children in Healthcare www.awch.org.au
Centre for Research Excellence in Cerebral Palsy (CRE-CP) www.cp-achieve.org.au
