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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.
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.
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.
In recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases.
Risk factors for non-communicable diseases (NCDs, cardiovascular diseases, cancers, chronic respiratory diseases, diabetes, and mental disorders) arise in adolescence but are mostly framed as relevant to health in adulthood; little is known about the relationship between co-occurring NCD risks and mental wellbeing in young people.
There is a greater prevalence of multiple sclerosis (MS), a neurological autoimmune condition, in populations living further from the equator, hypothesised to be due to reduced sunlight exposure. There exists a proven sunlight surrogate therapy for dermatological inflammatory conditions, in the form of narrowband NB-UVB phototherapy. Yet, there is a paucity of randomized trials of the therapeutic delivery of NB-UVB beyond dermatology for conditions with a systemic inflammatory component.
Citation: MacDonald B, Burmaz M, Baker S, et al. TrialR: critical enablers and the need for reusable Rare Disease Clinical Trial infrastructure in
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.
Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management. The International Rare Diseases Research Consortium (IRDiRC) addresses this need through global collaboration, aiming for timely and accurate diagnosis, development of 1000 new therapies, and methodologies to measure impact by 2027.
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".