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Research

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

Research

The gut microbiome is a well-recognized modulator of host immunity, and its compositions differ between geographically separated human populations. Systemic innate immune responses to microbial derivatives also differ between geographically distinct human populations. However, the potential role of the microbiome in mediating geographically varied immune responses is unexplored. We here applied 16S amplicon sequencing to profile the stool microbiome and, in parallel, measured whole-blood innate immune cytokine responses to several pattern recognition receptor (PRR) agonists among 2-year-old children across biogeographically diverse settings. Microbiomes differed mainly between high- and low-resource environments and were not strongly associated with other demographic factors. We found strong correlations between responses to Toll-like receptor 2 (TLR2) and relative abundances of Bacteroides and Prevotella populations, shared among Canadian and Ecuadorean children.

Research

Infant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide).

Research

Higher dietary fiber intakes during pregnancy may have the potential health benefits of increasing gut microbiome diversity, lowering the risk of glucose intolerance and pre-eclampsia, achieving appropriate gestational weight gain, and preventing constipation. In this observational cohort study, we have assessed the dietary fiber intakes of 804 women in late pregnancy, using a semi-quantitative food frequency questionnaire (SQ-FFQ). Overall, the median (interquartile range) dietary fiber intake was 24.1 (19.0-29.7) grams per day (g/day). Only 237/804 (29.5%) women met the recommended Adequate Intake (AI) of dietary fiber during pregnancy of 28 g/day.

Research

The prevention of suicide and suicide-related behaviour are key policy priorities in Australia and internationally. The World Health Organization has recommended that member states develop self-harm surveillance systems as part of their suicide prevention efforts. This is also a priority under Australia's Fifth National Mental Health and Suicide Prevention Plan. The aim of this paper is to describe the development of a state-based self-harm monitoring system in Victoria, Australia. In this system, data on all self-harm presentations are collected from eight hospital emergency departments in Victoria. A natural language processing classifier that uses machine learning to identify episodes of self-harm is currently being developed.

Research

Interparental conflict (IPC) has the potential to adversely affect children's social, emotional, and behavioural functioning. The overall objective of this study was to investigate the relationship between both the severity and chronicity of IPC across early and middle childhood and children's emotional-behavioural functioning at 10-11 years. Specifically, we aimed to: (1) identify distinct trajectories of IPC spanning 10-11 years since birth of the study child as reported by mothers, and (2) examine the emotional-behavioural functioning of children exposed to the identified IPC trajectories.

Research

Altered maternal haemoglobin levels during pregnancy are associated with pre-clinical and clinical conditions affecting the fetus. Evidence from animal models suggests that these associations may be partially explained by differential DNA methylation in the newborn with possible long-term consequences. To test this in humans, we meta-analyzed the epigenome-wide associations of maternal haemoglobin levels during pregnancy with offspring DNA methylation in 3,967 newborn cord blood and 1,534 children and 1,962 adolescent whole-blood samples derived from 10 cohorts.

Research

Information is scarce about the occupational health effects of exposure to alumina dust. This study examines the respiratory effects of inspirable alumina dust exposure in alumina refineries.

Research

To assess the scale of ethnic inequalities in severe maternal morbidity (SMM) rates and quantify the contribution of maternal characteristics to these disparities. This is a retrospective cohort study. A whole-of-population linked administrative data from 2002 to 2015 in Western Australia.

Research

Trans and gender diverse young people experience mental health difficulties self-harm and suicidality at markedly higher rates than the general population, yet they often feel isolated from mental health services. There is little qualitative research on the experiences of trans and gender diverse young people accessing mental health support in Australia.