Skip to content

Search

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.

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.

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. 

Public health impact of current and proposed age-expanded perennial malaria chemoprevention: a modelling study

In 2022, the World Health Organization extended their guidelines for perennial malaria chemoprevention (PMC) from infants to children up to 24 months old. However, evidence for PMC's public health impact is primarily limited to children under 15 months. Further research is needed to assess the public health impact and cost-effectiveness of PMC, and the added benefit of further age-expansion. We integrated an individual-based model of malaria with pharmacological models of drug action to address these questions for PMC and a proposed age-expanded schedule (referred as PMC+, for children 03-36 months).

What I Wish I Had Known: Examining Parent Accounts of Managing the Health of Their Child With Intellectual Disability

Appropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs.

Returning raw genomic data to research participants in a pediatric cancer precision medicine trial

In pediatric cancer precision medicine clinical trials settings, parents proactively seeking treatment and answers to causation may request return of their child's raw data and/or biospecimen. To satisfy such requests, the ZERO Childhood Cancer Program required a guidance document.

Subnational tailoring of malaria interventions to prioritize the malaria response in Guinea

In the context of high malaria burden yet limited resources, Guinea's national malaria programme adopted an innovative subnational tailoring approach, including engagement of stakeholders, data review, and data analytics, to update their malaria operational plan for 2024-2026 and identify the most appropriate interventions for each district considering the resources available.

Catalysing change in health and medical research policy: an Australian case study of deliberative democracy to reform sex and gender policy recommendations

Revising public health policy based on new data does not happen automatically. This is acutely relevant to the now undeniable evidence that many diseases develop differently between the sexes and may also be affected by gender. Current health and medical practices across the globe generally fail to cater for sex and gender effects in common diseases. 

X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment

X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X-linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae, however there are likely other non-FGF23 mediated mechanisms contributing to disease