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Consultation informs strategies for improving the use of functional evidence in variant classification

When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all avai…

What helps cardiac patients exercise after treatment, and when? Understanding physical activity and exercise participation following exercise-based cardiac rehabilitation

Despite evidence suggesting regular exercise (i.e. structured, repetitive and purposeful physical activity) attenuates cardiac patients’ decline in h…

Single-cell data combined with phenotypes improves variant interpretation

Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousa…

Incidence of cognitive errors in difficult airway management: an inference human factors study from the Pediatric Difficult Intubation Registry

Cognitive errors are known contributors to poor decision-making in healthcare. However, their incidence and extent of their contribution to negative…

Surveillance of avian influenza through bird guano in remote regions of the global south to uncover transmission dynamics

Avian influenza viruses (AIVs) pose a growing global health threat, particularly in low- and middle-income countries (LMICs), where limited surveilla…

Kings Birthday Honour for Children's Diabetes Centre Co-director

Congratulations to the Rio Tinto Children's Diabetes Centre Co-Director and Perth Children's Hospital Director of Research, Professor Timothy Jones,…

Help shape the future of health & medical research in your community

Find out what our communities had to say about the draft Statement on Consumers and Community Involvement in Health and Medical Research.

Genocide in the Wildflower State Screening & Panel discussion

A powerful screening of truth telling that captures the stories of the Western Australia Stolen Generation.

Study which deliberately infected participants leads to penicillin breakthrough

A unique study purposely giving participants Streptococcus pyogenes (Strep A) to learn how much penicillin it takes to prevent infection has found th…