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Genetic disease researcher named inaugural Louis Landau Chair of Child Health ResearchProfessor Aleksandra Filipovska has been appointed as the inaugural Louis Landau Chair of Child Health Research.
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
Financial toxicity of informal caregivers of colorectal cancer patients: A cross-sectional studyTo assess the level of financial toxicity of informal caregivers of colorectal cancer patients and explore the related key influencing factors.
Research
Editorial: Vaccines and immunization services during the pandemic era and beyondCitation: Amponsah-Dacosta E, Fulurija A, Afum-Adjei Awuah A, Mathema S, Wariri O. Editorial: Vaccines and immunization services during the pandemic
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ATFS-1 counteracts mitochondrial DNA damage by promoting repair over transcriptionThe ability to balance conflicting functional demands is critical for ensuring organismal survival. The transcription and repair of the mitochondrial genome requires separate enzymatic activities that can sterically compete, suggesting a life-long trade-off between these two processes.
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Parent-reported Areas of Greatest Challenge for their ADHD and/or Autistic ChildrenThis study aimed to understand how parents describe the most challenging behaviors exhibited by their children diagnosed with autism and/or ADHD, how those behaviours impact their family, and whether challenges are directly related to the core characteristics of these conditions.
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Environmental Determinants of Islet Autoimmunity (ENDIA) longitudinal prospective pregnancy to childhood cohort study of Australian children at risk of type 1 diabetes: parental demographics and birth informationThe Environmental Determinants of Islet Autoimmunity Study is an ongoing Australian prospective cohort study investigating how modifiable prenatal and early-life exposures drive the development of islet autoimmunity and type 1 diabetes in children. In this profile, we describe the cohort's parental demographics, maternal and neonatal outcomes and human leukocyte antigen genotypes.
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Statistical considerations for the platform trial in COVID-19 vaccine priming and boostingThe Platform trial In COVID-19 priming and BOOsting (PICOBOO) is a multi-site, adaptive platform trial designed to generate evidence of the immunogenicity, reactogenicity, and cross-protection of different booster vaccination strategies against severe acute respiratory syndrome coronavirus 2 and its variants, specific for the Australian context.
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Rebooting the anal sphincter: A retrospective cohort of children with intractable constipation receiving intrasphincteric botox injectionsChronic childhood constipation is a common problem that severely impacts quality of life. Recently, the efficacy of intrasphincteric botulinum toxin (botox) injection in breaking the cycle of constipation has been demonstrated. The current study aims to investigate response rate to treatment, symptom and examination finding associations, and identify associations between patient characteristics and outcome.
Research
Airway management in neonates and infants: Recommendations according to the ESAIC/BJA guidelinesSecuring an airway enables the oxygenation and ventilation of the lungs and is a potentially life-saving medical procedure. Adverse and critical events are common during airway management, particularly in neonates and infants. The multifactorial reasons for this include patient-dependent, user-dependent and also external factors.
News & Events
Prestigious national award for researcher seeking to improve Indigenous cancer outcomesCongratulations to Indigenous genomics researcher Dr Justine Clark, who is one of two scientists nationally to receive the Australian Academy of Science’s 2024 Aboriginal and Torres Strait Islander Science Award.
Research
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".
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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
Research
Widespread haemorrhages in infants post-shunting (WHIPS): clinical features, risk factors and neuroimaging characteristics of a rare and under-recognised phenomenonInfants undergoing CSF shunting procedures face a rare complication which we propose to rename "Widespread Haemorrhages in Infants Post-Shunting" (WHIPS) to better capture this unique phenomenon specific to infants undergoing CSF diversion. Our objective is to analyse the risk factors for WHIPS development and provide a detailed neuroradiological description of these haemorrhages.