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Research projects sharing in a $2.1 million funding boost will seek to translate research findings into changes that benefit patients and help the health system run more efficiently.

Research

Children living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families. The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future. This is experienced by the patient as well as by the family.

Research

People living with rare diseases had a high risk of negative health outcomes due to COVID-19. Pandemic preparedness will ensure best practice procedures and optimal outcomes during future pandemic events. This paper sought to understand the needs of children with rare diseases during the COVID-19 pandemic to inform preparation for future pandemic and disaster events. First, impacts and outcomes from the COVID-19 pandemic on people living with rare disease were identified in the literature.

Research

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Research

The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey.

Research

Sepsis, for children and their parents, is a life-altering illness with far-reaching psychosocial and physical impacts. We aimed to explore the needs of such patients and their parents after hospital admission for sepsis to inform the development of a Western Australian postsepsis care service.  

Research

Addressing the recognized challenges and inequalities in providing high quality healthcare for rare diseases such as children's interstitial lung disease (chILD) requires collaboration across institutional, geographical, discipline, and system boundaries. The Children's Interstitial Lung Disease Respiratory Network of Australia and New Zealand (chILDRANZ) is an example of a clinical network that brings together multidisciplinary health professionals for collaboration, peer learning, and advocacy with the goal of improving the diagnosis and management of this group of rare and ultra-rare conditions.

Research

The prevalence of taeniasis in Thailand has decreased over the past six decades. However, it remains a public health concern, particularly in focal areas, especially along the border regions where migration between Thailand and neighboring endemic countries is frequent. Spatial distribution analysis provides a useful method for identifying high-risk areas and implementing targeted integrated control measures. This study aimed to examine the spatial patterns of taeniasis in 2008 and 2014, along with their associated One Health risk factors at the sub-district level.