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Powerful new network to ensure Indigenous Australians can benefit from genomic medicineA national alliance of the brightest minds in genomic science, academia, policy makers, industry and Indigenous leaders will work to break down barriers to ensure Aboriginal and Torres Strait Islander people can benefit from advances in genomic medicine if they choose.
Research
Patient-derived xenografts and single-cell sequencing identifies three subtypes of tumor-reactive lymphocytes in uveal melanoma metastasesUveal melanoma is a rare melanoma originating in the eye's uvea, with 50% of patients experiencing metastasis predominantly in the liver. In contrast to cutaneous melanoma, there is only a limited effectiveness of combined immune checkpoint therapies, and half of patients with uveal melanoma metastases succumb to disease within 2 years.
Research
A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistanceMitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.
Research
Deciphering IGH rearrangement complexity and detection strategies in acute lymphoblastic leukaemiaAcute lymphoblastic leukaemia is a highly heterogeneous malignancy characterised by various genomic alterations that influence disease progression and therapeutic outcomes. Gene fusions involving the immunoglobulin heavy chain gene represent a complex and diverse category.
Research
Epigenomic variability is associated with age-specific naïve CD4 T cell response to activation in infants and adolescentsChildhood is a critical period of immune development. During this time, naïve CD4 T cells undergo programmed cell differentiation, mediated by epigenetic changes, in response to external stimuli leading to a baseline homeostatic state that may determine lifelong disease risk. However, the ontogeny of epigenetic signatures associated with CD4 T cell activation during key developmental periods are yet to be described.
Research
DraculR: A Web-Based Application for In Silico Haemolysis Detection in High-Throughput microRNA Sequencing DataThe search for novel microRNA (miRNA) biomarkers in plasma is hampered by haemolysis, the lysis and subsequent release of red blood cell contents, including miRNAs, into surrounding fluid. The biomarker potential of miRNAs comes in part from their multicompartment origin and the long-lived nature of miRNA transcripts in plasma, giving researchers a functional window for tissues that are otherwise difficult or disadvantageous to sample.
Research
Randomised clinical trial using Coronary Artery Calcium Scoring in Australian Women with Novel Cardiovascular Risk Factors (CAC-WOMEN Trial): Study protocolCardiovascular disease (CVD) is the leading cause of death in women around the world. Aboriginal and Torres Strait Islander women (Australian Indigenous women) have a high burden of CVD, occurring on average 10-20 years earlier than non-Indigenous women.
News & Events
Prestigious fellowship for pioneering researcherAleksandra Filipovska has been elected a Fellow of the Australian Academy of Health and Medical Sciences.
Research
Type-2 diabetes epigenetic biomarkers: present status and future directions for global and Indigenous healthType-2 diabetes is a systemic condition with rising global prevalence, disproportionately affecting Indigenous communities worldwide. Recent advances in epigenomics methods, particularly in DNA methylation detection, have enabled the discovery of associations between epigenetic changes and Type-2 diabetes. In this review, we summarise DNA methylation profiling methods, and discuss how these technologies can facilitate the discovery of epigenomic biomarkers for Type-2 diabetes.
Research
Cancer Cell Biology Research in an Indigenous Childhood Cancer ContextIn Australia, cancer medicine is increasingly guided by our expanding knowledge of cancer genomics (the study of genetic information) and biology. Personalized treatments and targets are often defined by an individual’s genetic profile—known as precision cancer medicine. The translation of genomics-guided precision therapeutics from bench to bedside is beginning to produce real clinical benefits for Australians living with cancer.