18/02/2019 → 18/02/2020
Dr Carolyn Bursle
Murdoch Children’s Research Institute
30 Years of Paediatric Mitochondrial Disease in Australia
Dr Bursle’s research will provide an overview of mitochondrial diseases in children over the past 30 years in Australia. This will help to define the frequency of childhood onset mitochondrial disease as well as the types of mitochondrial diseases and their effects on patients.
A greater understanding of how and when mitochondrial diseases are diagnosed in Australia and how this has changed over the past three decades has the potential to reduce the time to diagnosis, improve the patient journey to diagnosis and promote uniformity in diagnostic and treatment processes.
In order to provide better care and support for those living with mitochondrial diseases, data regarding the number of patients, age of onset, types of mitochondrial diseases and their impacts is vital. This will help understand the current and future needs of patients, and target support and clinical services appropriately.
Improved understanding of the prevalence and spectrum of the disease will help to increase awareness of mitochondrial disorders.
The project will also identify future research avenues, including expansions of this study to include adult-onset mitochondrial disease.