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Research

Extensive research over the past 50 years has resulted in significant improvements in survival for patients diagnosed with leukemia. Despite this, a subgroup of patients harboring high-risk genetic alterations still suffer from poor outcomes. There is a desperate need for new treatments to improve survival, yet consistent failure exists in the translation of in vitro drug development to clinical application.

Research

Environmental epigenetics is a fast-growing field of scientific research attracting interest from key stakeholders in Indigenous health internationally, including researchers, clinicians, policymakers, and advocacy organisations. It is the study of how various external factors, including food, stress, and toxins, alter genetic expression, and could be biologically passed down to children (and potentially grandchildren). 

Research

Cutaneous squamous cell carcinoma is a significant cause of morbidity for immunosuppressed patients such as organ transplant recipients; however, histological parameters which predict the likelihood of tumor progression are typically based on general population studies in which immunosuppressed patients represent only a small fraction of cases. 

Research

Cardiovascular disease contributes significantly to disease burden among many Indigenous populations. However, data on stroke incidence in Indigenous populations are sparse. We aimed to investigate what is known of stroke incidence in Indigenous populations of countries with a very high Human Development Index locating the research in the broader context of Indigenous health.

Research

To estimate the prevalence, distribution, and co-occurrence of mental ill-health and substance use among gender and sexuality diverse young people relative to their cisgender and heterosexual peers in Australia using population-level, nationally representative data.

Research

CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.  

Research

Copy number alterations (CNAs), resulting from the gain or loss of genetic material from as little as 50 base pairs or as big as entire chromosome(s), have been associated with many congenital diseases, de novo syndromes and cancer. It is established that CNAs disturb the dosage of genomic regions including enhancers/promoters, long non-coding RNA and gene(s) among others, ultimately leading to an altered balance of key cellular functions.

Research

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.

Research

Physically locating liquor stores near schools can strongly influence the chances of youth accessing and consuming alcohol, and may also increase children's exposure to alcohol advertising. Investigating the association between the presence of a liquor store near a school and the prevalence of outdoor alcohol advertising is crucial from a policy perspective, as it can inform future regulations on the placement of liquor stores and outdoor advertising near educational institutions. 

Research

Pete Azzopardi PhD, FRACP, MEpi, MBBS, GDipBiostats, BMedSci Head, Adolescent Health and Wellbeing Head, Adolescent Health and Wellbeing Professor