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Research

Genetic 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". 

Research

In partnership with local Aboriginal Community Controlled Health Organisations, the Elder-led co-designed Koolungar Moorditj Healthy Skin project is guided by principles of reciprocity, capacity building, respect, and community involvement. Through this work, the team of Elders, community members, clinicians and research staff have gained insight into the skin health needs of urban-living Aboriginal koolungar (children); and having identified a lack of targeted and culturally appropriate health literacy and health promotion resources on moorditj (strong) skin, prioritised development of community-created healthy skin resources.

Research

Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.

Research

To investigate the long-term effects of early-life recurrent otitis media (OM) and subsequent behavioural problems in children at the age of 10 years.

Research

Non-communicable diseases (NCDs) such as cancer, diabetes, heart disease, mental disorder and chronic lung conditions are the leading cause of death and disability in Indonesia. Adolescence is when risks for NCDs emerge and it is also an important life stage for intervention, yet young people are often at the margins of NCD policy and actions.

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Respiratory syncytial virus (RSV) reinfection in children is poorly understood. We examined the incidence, characteristics, and outcomes of hospital-attended RSV reinfections in children <16 years in Western Australia between 2012 and 2022.

Research

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes.

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Discharge against medical advice (DAMA) is a priority issue for the health system. Little is known about the factors associated with DAMA for Aboriginal and/or Torres Strait Islander (Aboriginal) children in Australia. 

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Community sport coaches in Western Australia lack an understanding, the confidence, and knowledge in supporting young people with Type 1 diabetes (T1D). This study aims to identify what T1D educational resources are required to upskill coaches in Western Australia. 

Research

Acute rheumatic fever (ARF), a serious inflammatory condition, often leads to rheumatic heart disease. Between 2011 and 2016, Aotearoa New Zealand implemented a rheumatic fever prevention programme to reduce high rates of ARF through improved community access to timely diagnosis and early treatment of group A streptococcal pharyngitis, which has been shown to prevent subsequent ARF.