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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.

TrialR: critical enablers and the need for reusable Rare Disease Clinical Trial infrastructure in Western Australia

Citation: MacDonald B, Burmaz M, Baker S, et al. TrialR: critical enablers and the need for reusable Rare Disease Clinical Trial infrastructure in

Insights from a trial of narrowband UVB for early multiple sclerosis

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. 

Surfacing undiagnosed disease: consideration, counting and coding

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.

The relationship between non-communicable disease risk and mental wellbeing in adolescence: a cross-sectional study utilising objective measures in Indonesia

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.

The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap

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.