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Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in ChinaIn China, there are severe unmet medical needs of people living with rare diseases. Relatedly, there is a dearth of data to inform rare diseases policy. This is historically partially due to the lack of informatics infrastructure, including standards and terminology, data sharing mechanisms and network; and concerns over patient privacy protection.
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Association between interpregnancy interval and pregnancy complications by history of complications: A population-based cohort studyTo examine if the association between interpregnancy interval (IPI) and pregnancy complications varies by the presence or absence of previous complications. Design and setting Population-based longitudinally linked cohort study in Western Australia (WA).
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Acute haemoptysis, fever and abdominal pain in an adolescent from northern AustraliaChristopher Asha André Dr Anita Blyth Bowen Schultz Campbell MBBS (Hons) DCH FRACP FRCPA PhD BA MBBS DCH FRACP PhD GAICD FAHMS OAM MBChB, PhD, FRACP
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Molecular diagnosis of scabies using a novel probe-based polymerase chain reaction assay targeting high-copy number repetitive sequences in the sarcoptes scabiei genomeThe suboptimal sensitivity and specificity of available diagnostic methods for scabies hampers clinical management, trials of new therapies and epidemiologic studies. Additionally, parasitologic diagnosis by microscopic examination of skin scrapings requires sample collection with a sharp scalpel blade, causing discomfort to patients and difficulty in children. Polymerase chain reaction (PCR)-based diagnostic assays, combined with non-invasive sampling methods, represent an attractive approach.
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A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromesHereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation.
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Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndromeBehavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework.
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Mental HealthAccording to the Young Minds Matter study, mental health disorders such as anxiety and depression are experienced by approximately one in seven or 560,000 young people in Australia. These disorders can often have a significant impact on children’s learning and development and on family life.
The Kids Research Institute Australia is equipped with a diverse range of histology and microscopy equipment and analysis software to facilitate state-of-the-art imaging.
The ORIGINS Project is a decade-long longitudinal study of more than 18,000 individuals including mothers, partners and children, as part of a collaboration between The Kids Research Institute Australia and Joondalup Health Campus.
A Kimberley study seeking to better understand Strep A in remote settings is helping to guide new approaches to prevent acute rheumatic fever (ARF) – an auto-immune response that typically begins with a sore throat and causes high fever, tiredness and swollen joints.