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Discover. Prevent. Cure.
We're searching for answers to some of the most common and complex childhood diseases, conditions and issues. In addition to our four research themes (Indigenous Health, Brain and Behaviour, Chronic and Severe Diseases, Early Environment), you can also discover more about specific research we're involved in and the technology we use.
Discover what drives us as an organisation. Learn about history and the impact of the Institute along with the amazing ambitious goals we've achieved so far in the field of children's research.
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Different audiences rely on us for very different things. Whether you're a valued donor, curious professional researcher, inquisitive member of the public, or a corporate supplier looking to offer support - we've collated the resources you need.
DYRK1A is a serine/threonine kinase encoded on human chromosome 21 (HSA21) that has been implicated in several pathologies of Down syndrome (DS), including cognitive deficits and Alzheimer's disease. Although children with DS are predisposed to developing leukemia, especially B cell acute lymphoblastic leukemia (B-ALL), the HSA21 genes that contribute to malignancies remain largely undefined. Here, we report that DYRK1A is overexpressed and required for B-ALL. Genetic and pharmacologic inhibition of DYRK1A decreased leukemic cell expansion and suppressed B-ALL development in vitro and in vivo. ...
CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...
For healthcare workers performing aerosol-generating procedures during the COVID-19 pandemic, well fitted filtering facepiece respirators, for example, N95/FFP2 or N99/FFP3 masks, are recommended as part of personal protective equipment. In this review, we evaluate the role of fit checking and fit testing of respirators, in addition to airborne protection provided by respirators. Filtering facepiece respirators are made of material with sufficient high filter capacity to protect against airborne respiratory viruses. ...
Scabies is an important predisposing factor for impetigo but its role in more serious skin and soft tissue infections (SSTIs) is not well understood. Information is limited on incidence of SSTIs in the presence of endemic scabies. We conducted a prospective study of hospital admissions for SSTIs in the Northern Division of Fiji (population: 131,914). Prospective surveillance for admissions with impetigo, abscess, cellulitis, wound infection, pyomyositis, necrotizing fasciitis, infected scabies, and crusted scabies was conducted at the Division's referral hospital between 2018 to 2019. Information was collected on demographic characteristics, clinical features, microbiology, treatment and outcomes. ...
Young people (aged 12-25 years) with diverse sexuality, gender, or bodily characteristics, such as those who identify as lesbian, gay, bisexual, transgender, intersex, or queer (LGBTIQ+), are at substantially greater risk of a range of mental, physical, and sexual health difficulties compared with their peers. Digital health interventions have been identified as a potential way to reduce these health disparities. ...
Perioperative respiratory adverse events account for a third of all perioperative cardiac arrests, with bronchospasm and laryngospasm being most common. Standard treatment for bronchospasm is administration of inhaled salbutamol, via pressurized metered dose inhaler. There is little evidence on the best method of attaching the pressurized metered dose inhaler to the artificial airway during general anesthesia. The aim of this study is to investigate the best method to deliver aerosolized salbutamol via pressurized metered dose inhaler to the lungs of an anesthetized child. ...
Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them. ...
Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT. ...
Introduction Fetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by prenatal alcohol exposure (PAE). FASD research is a rapidly growing field that crosses multiple disciplines. To ensure research is relevant and meaningful for people living with FASD, their families, and the broader public there is a need to engage community members in setting priorities for research. ...
Although adolescent dietary patterns tend to be of poor quality, it is unclear whether dietary patterns established in adolescence persist into adulthood. We examined trajectories across adolescence and early adulthood for 2 major dietary patterns and their associations with childhood and parental factors. Using data from the Western Australian Pregnancy Cohort (Raine Study), intakes of 38 food groups were estimated at ages 14, 17, 20 and 22 y in 1414 participants using evaluated FFQs. ...