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Research

Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. 

Research

Validity of using a semi-automated screening tool in a systematic review assessing non-specific effects of respiratory vaccines

The abstract screening process of systematic reviews can take thousands of hours by two researchers. We aim to determine the reliability and validity of Research Screener, a semi-automated abstract screening tool within a systematic review on non-specific and broader effects of respiratory vaccines on acute lower respiratory infection hospitalisations and antimicrobial prescribing patterns in young children.

Research

Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people

Globally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine. However, achieving this remains constrained by a paucity of data that quantifies access to clinical genomics, particularly amongst Indigenous populations.

Research

Performance of antigen detection for HRP2-based malaria rapid diagnostic tests in community surveys: Tanzania, July–November 2017

Malaria rapid diagnostic tests (RDTs) based on the detection of the Plasmodium falciparum histidine-rich protein 2 (HRP2) antigen are widely used for detection of active infection with this parasite and are the only practical malaria diagnostic test in some endemic settings.

Research

COVID-19-Related Submission Priorities From the Journal of the Pediatric Infectious Diseases Society

Christopher Blyth MBBS (Hons) DCH FRACP FRCPA PhD Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases

Research

Interpregnancy interval and adverse birth outcomes: a population-based cohort study of twins

To investigate associations between interpregnancy intervals (IPIs) and adverse birth outcomes in twin pregnancies.

Research

Towards precision cancer medicine for Aboriginal and Torres Strait Islander cancer health equity

Delivering cancer control at scale for Aboriginal and Torres Strait Islander communities is a national priority that requires Aboriginal and Torres Strait Islander leadership and codesign, as well as significant involvement of the Aboriginal community-controlled health sector. The unique genomic variation observed among Aboriginal and Torres Strait Islander peoples may have implications for standard and precision medicine.

Research

Catalyst Twenty-Twenty: Post-Traumatic Growth at Scales of Person, Place and Planet

Planetary health is a broad multidisciplinary effort that attempts to address what has been described as “Anthropocene Syndrome”—the wicked, interrelated challenges of our time. These include, but are not limited to, grotesque biodiversity losses, climate change, environmental degradation, resource depletion, the global burden of non-communicable diseases (NCDs), health inequalities, social injustices, erosion of wisdom and civility, together with the many structural underpinnings of these grand challenges.

Research

Genetic association study of childhood aggression across raters, instruments, and age

Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap.

News & Events

Top-up funding announced to fast-track clinical trials of Spritz-OM

Researchers developing a nasal therapy to prevent childhood ear infections and reduce overuse of antibiotics have received $300,000 in top-up funding.