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Research
Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic 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 vaccinesThe 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 peopleGlobally, 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.
News & Events
Diabetes research the big winner at this year’s Raine AwardsChildren’s Diabetes Centre researchers at The Kids Research Institute Australia are among the big winners of prestigious Raine Medical Research Foundation Awards.
News & Events
$20 million partnership a win for WA kidsIn the largest donation in Telethon history, BHP Billiton has committed $20 million over the next five years to The Kids Research Institute Australia
News & Events
How mums talk influences children’s perspective-taking abilityNew research shows that kids whose mums talk more frequently about others' thoughts tend to be better at taking another's perspective than other children.
Research
Innate inflammatory responses of pediatric cystic fibrosis airway epithelial cells: Effects of nonviral and viral stimulationThere is controversy regarding whether cystic fibrosis (CF) airway epithelial cells (AECs) are intrinsically proinflammatory.
Research
Comparison of a rapid antigen test with nucleic acid testing during cocirculation of pandemic influenza A/H1N1 09 and Seasonal influena A/H3N2The rapid diagnosis of influenza is critical in optimizing clinical management. Rapid antigen tests have decreased sensitivity in detecting pandemic influenza.
Research
Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Research
Closed Loop Study – Day and Night Feasibility StudyA Closed-Loop System will potentially have a major impact upon acute and chronic complications of diabetes as well as upon their quality of life.