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News & Events
Opinion: Modelling for the health of our next generationNearly 170 years ago a British doctor applied geospatial mapping to identify the source of a cholera outbreak in central London. Using a street map to plot the location of the homes of the sick, Dr John Snow was able to pinpoint a ‘ground zero’ for the outbreak – a contaminated water pump.
News & Events
Government grants to support valuable new child health researchEight The Kids Research Institute Australia-led projects will benefit from the latest round of WA Child Research Fund (WACRF) grants, announced this week by Medical Research Minister Stephen Dawson.
News & Events
New study shows fetal head size could link to autismResearch has found a link between children with larger head measurements in-utero and a subsequent diagnosis of Autism Spectrum Disorder (ASD) as toddlers.
News & Events
Critical mass in rare diseases - an innovative internet approachThe internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.
Research
Building Out Bullying: The influence of the school environment on bullying behaviour and mental health in primary and secondary school studentsThe Building Out Bullying project is funded by Healthway and aims to generate policy-relevant evidence, system-level guidelines, and school-based interventions to improve the bullying behaviour and mental health of children attending primary and secondary school in Western Australia.
Research
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
Research
Elevated leukotriene B4 and 8-isoprostane in exhaled breath condensate from preterm-born infantsInflammation and oxidative stress play a key role in the development of bronchopulmonary dysplasia (BPD), possibly contributing to persistent respiratory morbidity after preterm birth. We aimed to assess if inflammatory markers were elevated in exhaled breath condensate (EBC) of infants born very prematurely (< 32 weeks gestation) at 12-16 corrected months of age, and if increased levels were associated with BPD diagnosis and respiratory morbidity.
Affecting approximately 400 people in Australia, Rett syndrome is a rare neurological disorder that occurs almost exclusively in girls and affects mobility and development, impacting everything from walking and talking to eating and breathing.
Research
There is variability in the attainment of developmental milestones in the CDKL5 disorderIndividuals with the CDKL5 disorder have been described as having severely impaired development.
Research
25-hydroxyvitamin D3 status is associated with developing adaptive and innate immune responses in the first 6 months of lifeVitamin D status in early life has been linked to the risk of allergic disease in multiple observational studies.