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. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

Conventional vaccine design has been based on trial-and-error approaches, which have been generally successful. However, there have been some major failures in vaccine development and we still do not have highly effective licensed vaccines for tuberculosis, HIV, respiratory syncytial virus, and other major infections of global significance. Approaches at rational vaccine design have been limited by our understanding of the immune response to vaccination at the molecular level. Tools now exist to undertake in-depth analysis using systems biology approaches, but to be fully realized, studies are required in humans with intensive blood and tissue sampling. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• November 2020

Maternal immunization with pneumococcal conjugate vaccine (PCV) may protect young infants in high-risk settings against the high risk of pneumococcal infections in early life. The aim of this study was to determine the safety and immunogenicity of 13-valent PCV (PCV13) in healthy women of childbearing age in PNG. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• November 2020

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. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• November 2020

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. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

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. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

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. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• January 2021

Evidence based strategies are needed to enhance the ability of the Alcohol and Other Drugs (AOD) sector to prevent prenatal alcohol exposure (PAE) and harms including Fetal Alcohol Spectrum Disorder (FASD). In Australia FASD prevention research has largely focused on primary care and child development sectors, while little research has been conducted with AOD services providing comprehensive support to high risk women. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• November 2020

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. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• December 2020

The role of the anti-Müllerian hormone (AMH) as an indicator of physical and reproductive health in men is unclear. We assessed the relationships between AMH and follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and metabolic parameters, in a cohort of expectant fathers. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• March 2022