Search

Pandemic preparedness needs for children with rare diseases and their families: A perspective of COVID-19 experiences

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.

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

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". 

Perth researchers put rare diseases at the centre of global health innovation

Recently, researchers from The Kids Research Institute Australia, Perth Children’s Hospital and The University of Western Australia contributed to three major international publications, collectively reinforcing rare diseases as a critical, community-wide health priority.

Major donation to change the landscape of rare and undiagnosed disease

The Kids Research Institute Australia is proud to be a part of the Rare Care Comprehensive Centre (RCCC) for children with rare and undiagnosed disease, made possible thanks to one of Western Australia’s biggest philanthropic gifts.

Generous new funding to fast-track rare disease diagnosis and unlock new treatments

Research that screens novel genetic variants identified in disease will be fast-tracked by a funding boost, offering new hope of an early diagnosis for families of children with a rare or undiagnosed genetic disease.

New funding to tackle undiagnosed diseases and improve cancer immunotherapy

One of the researchers who helped crack the code of 10-year-old Northam girl Charlotte Patterson’s incredibly rare disease has received State Government funding that will allow her to use the same methods to rapidly assess the cases of hundreds more patients living with undiagnosed disease.

The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations

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.