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Genomic characterization of clinically significant blood group variants in Aboriginal Australians

Hematological disorders are often treated with blood transfusions. Many blood group antigens and variants are population-specific, and for patients with rare blood types, extensive donor screening is required to find suitable matches for transfusion. There is a scarcity of knowledge regarding blood group variants in Aboriginal Australian populations, despite a higher need for transfusion due to the higher prevalence of renal diseases and anemia.

Priority setting: Development of the South Australian Aboriginal Chronic Disease Consortium RoadMap for Action

Aboriginal and Torres Strait Islander (Aboriginal) people in South Australia are overburdened by cardiovascular disease, diabetes and cancer. The South Australian Aboriginal Chronic Disease Consortium (Consortium) was established in June 2017 as a collaborative partnership to lead the implementation of three state-wide chronic disease plans using a strategic approach to identifying key priority areas for action.

Global Disparities of Cancer and Its Projected Burden in 2050

Cancer prevention and care efforts have been challenged by the COVID-19 pandemic and armed conflicts, resulting in a decline in the global Human Development Index (HDI), particularly in low- and middle-income countries. These challenges and subsequent shifts in health care priorities underscore the need to continuously monitor cancer outcome disparities and statistics globally to ensure delivery of equitable and optimal cancer prevention and care in uncertain times.

Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease

Acute lower respiratory tract infection (ALRI) remains a major worldwide cause of childhood mortality, compelling innovation in prevention and treatment. Children in Papua New Guinea (PNG) experience profound morbidity from ALRI caused by Streptococcus pneumoniae. As a result of evolutionary divergence, the human PNG population exhibits profound genetic variation and diversity. To address unmet health needs of children in PNG, we tested whether genetic variants increased ALRI morbidity. 

“If you build it, they will come”: the convergence of funding, research and collaboration in paediatric brain cancer clinical trials

Each year, approximately 1000 children in Australia and New Zealand, aged 0–14 years, are diagnosed with cancer. Despite paediatric cancer accounting for less than 1% of all cancer cases, the impact on their families and communities is profound and disproportionate.

Biologic and Clinical Analysis of Childhood Gamma Delta T-ALL Identifies LMO2/STAG2 Rearrangements as Extremely High Risk

Acute lymphoblastic leukemia expressing the gamma delta T-cell receptor (γδ T-ALL) is a poorly understood disease. We studied 200 children with γδ T-ALL from 13 clinical study groups to understand the clinical and genetic features of this disease. We found age and genetic drivers were significantly associated with outcome.

Predictive gene expression signature diagnoses neonatal sepsis before clinical presentation

Neonatal sepsis is a deadly disease with non-specific clinical signs, delaying diagnosis and treatment. There remains a need for early biomarkers to facilitate timely intervention. Our objective was to identify neonatal sepsis gene expression biomarkers that could predict sepsis at birth, prior to clinical presentation. 

The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap

In recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases. 

Risk and protective factors of youth crime: An umbrella review of systematic reviews and meta-analyses

Several systematic reviews and meta-analyses have been conducted on the risk and protective factors of youth crime. This study aims to consolidate this evidence using an umbrella review methodology.

Cohort profile: The WAACHS Linked Data Study

Despite the volume of accumulating knowledge from prospective Aboriginal cohort studies, longitudinal data describing developmental trajectories in health and well-being is limited.