Rare Diseases Flagship
Rare diseases affect less than 1 in 2000 people and are a public health priority with United Nations recognition. Over 7000 different rare diseases collectively affect up to 1.2M Australians, including estimates of almost 40,000 Indigenous people.
Rare diseases can present multiple challenges to the patient, their family, and health systems, with Indigenous populations often more significantly affected due to other compounding health, social and economic inequalities.
Patients with rare diseases typically experience a protracted journey to diagnosis, however advances in genome sequencing and phenotyping have benefited many rare disease cohorts internationally by increasing the rate of a timely, accurate diagnosis and in turn better-informed management, therapeutic and reproductive options.
The WA Node team
Gareth Baynam, Glenn Pearson, Kristen Nowak, Rebecca D’Souza, Timo Lassmann, Danielle Headland, Sian Gannon, Yarlalu Thomas, Jessica Buck.
WA Node Co-ordinator: Erin Tonkin
WAAGC
The WA Aboriginal Governance Committee has been formed to provide governance over the activities in Western Australia.
Danielle Headland
Josie Ford
Liam Bedford
Mel Robinson (NIGC deputy chair)
Sandra Moore
Tracey Brand
Two members of the WAAGC will attend the ALIGN National Indigenous Governance Council meetings, this will be shared amongst the committee.
The Rare Diseases Flagship goals
This Flagship will implement and evaluate initiatives to improve identification of Indigenous patients with rare diseases and provide them and their families with culturally-appropriate and equitable genomic and related healthcare services.
Activities will include collaborating with primary health providers to improve clinical pathways and associated educational and language materials to provide clear, culturally-appropriate and concise guidance for identifying and referring suspected rare disease patients to relevant services.
One partnership will be with the UNESCO endorsed and World Economic Forum partnered ‘Lyfe Languages’ Program (Indigenous medical translator).
Strengthened partnerships with diagnostic laboratories and researchers will ensure the most suitable genomic testing and data analysis is performed to achieve diagnosis.
Node leaders have a longstanding focus on rare diseases and the benefit genomics can provide Indigenous peoples.