Rare Disease Resources for Health Professionals and Families
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 Health Alliance australiangenomics.org.au/our-research/rare-disease-flagship research into nationwide implementation of genomic testing
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
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
ARCAN arcan.org.au Australian Rare Chromosome Awareness Network: an organisation created by parents, for parents and the community; to raise awareness for rare chromosome disorders
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:
ORPHANET List of rare diseases and synonyms
Creswick Report
Association for the Wellbeing of Children in Healthcare www.awch.org.au
Bowel Group for Kids Inc www.bgk.org.au
Centre for Research Excellence in Cerebral Palsy (CRE-CP) www.mcri.edu.au/research/research-projects/centre-for-research-excellence-in-cerebral-palsy-(cre-cp)