Search
Research
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonTimo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Computational Biology timo.lassmann@thekids.org.au
Research
Evaluation of a phased pneumococcal conjugate vaccine introduction in Mongolia using enhanced pneumonia surveillance and community carriage surveysStreptococcus pneumoniae causes substantial morbidity and mortality among children. The introduction of pneumococcal conjugate vaccines (PCV) has the potential to dramatically reduce disease burden. As with any vaccine, it is important to evaluate PCV impact, to help guide decision-making and resource-allocation.
Research
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNAAneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials.
Research
Making a difference: Engaging both hearts and minds in research practiceThis paper discusses the findings and the research process undertaken thus far for the Looking Forward Aboriginal Mental Health Project.
Research
Factors for Children's Receptive Vocabulary Development from Four to Eight Years in the Longitudinal Study of Australian ChildrenVariation in receptive vocabulary ability is associated with variation in children's school achievement, and low receptive vocabulary ability is a risk...
Research
The Smoking MUMS (Maternal Use of Medications and Safety) study: Protocol for a population-based cohort study using linked administrative dataApproximately 14% of Australian women smoke during pregnancy. Although the risk of adverse outcomes is reduced by smoking cessation, less than 35% of...
Research
The FABS trial: A randomised control trial of the effects of a 6-month physical activity intervention on adherence and long-term physical activityThe aim of this study is to assess in older adults with memory complaints, the effects of a 6-month home-based physical activity (PA) intervention on...
Research
Genome-wide association analysis identifies 13 new risk loci for schizophreniaCommon genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder.
Research
Maternal and neonatal outcomes in pregnancies following colorectal cancerThe risks of adverse obstetric outcomes among young women survivors of colorectal cancer (CRC) are uncertain.
Research
Emerging Early Life Environmental Exposures and Lung DevelopmentIn this review article we systematically summarize the evidence for an impact on lung development of 1) maternal ingestion of arsenic contaminated drinking...