Enhancing diagnoses and treatments for sick kids

The next round of WA Child Research Fund (external site) opportunities to improve the health of children and adolescents in Western Australia opens in April.
Since its inception in 2012, the Fund has awarded 160 grants valued at $46.8 million in a joint contribution between the Telethon Trust and Department of Health.
Outcomes from the 2020-21 funding round include:
Improved diagnosis for mitochondrial diseases
Mitochondrial diseases are the most common group of inherited metabolic diseases worldwide caused by mutations in the genes responsible for energy production.
Professor Aleksandra Filipovska and her team from The Kids Research Institute Australia on behalf of the Centre for Child Health Research, University of Western Australia developed and applied new technologies to improve the diagnosis of mitochondrial diseases.
To provide a molecular diagnosis, the team took a holistic approach by using omics technologies such as transcriptomics, proteomics, lipidomics and metabolomics. This enabled them to measure the total expression of genes, proteins, lipids and different metabolites in cells or tissues from patients suspected of suffering from mitochondrial disease.
The team curated in-house molecular signatures of different mitochondrial diseases, enabling reliable diagnoses to be made for patients, helping their choice of treatments in the clinic.
Using superior natural killer cells to treat leukemia
Harnessing an individual’s immune system to fight cancer is successful for some patients, however not all are healthy enough to have their own cells harvested. This patient group has poor outcomes with less than a 50 per cent chance of survival, meaning an alternative approach is needed.
Dr Bree Foley and her research team from The Kids Research Institute Australia on behalf of the Centre for Child Health Research, University of Western Australia investigated findings that provided important proof-of-concept data that understanding the mechanisms that drive superior natural killer (NK) cell responses against leukaemia can help us to further boost and augment these responses.
The aim is to further boost and augment these responses by designing an optimal NK cell therapy to treat leukaemia.
Dr Foley successfully leveraged results from the study to obtain additional funding from Cancer Council WA to perform single cell RNA sequencing, which will advance this and ongoing projects.
The team advanced knowledge in the field by presenting its work at the Society for Natural Immunity Conference in Oslo, Norway, and the Australian and New Zealand Society for Immunology Annual Meetings.