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)