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Research

Epigenetics links perinatal influences with later obesity. We identifed differentially methylated CpG (dmCpG) loci measured at 17 years associated with concurrent adiposity measures and examined whether these were associated with hsCRP, adipokines, and early life environmental factors. Genome-wide DNA methylation from 1192 Raine Study participants at 17 years, identified 29 dmCpGs associated with body mass index, 10 with waist circumference and 9 with subcutaneous fat thickness.

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Surgical resection of cancer remains the frontline therapy for millions of patients annually, but post-operative recurrence is common, with a relapse rate of around 45% for non-small cell lung cancer. The tumour draining lymph nodes (dLN) are resected at the time of surgery for staging purposes, and this cannot be a null event for patient survival and future response to immune checkpoint blockade treatment. This project investigates cancer surgery, lymphadenectomy, onset of metastatic disease, and response to immunotherapy in a novel model that closely reflects the clinical setting. In a murine metastatic lung cancer model, primary subcutaneous tumours were resected with associated dLNs remaining intact, completely resected or partially resected.

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Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

News & Events

The Kids Research Institute Australia's Adelaide facility has been officially opened by South Australian Premier Peter Malinauskas.

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Dynamic cellular and molecular adaptations in early life significantly impact health and disease. Upon birth, newborns are immediately challenged by their environment, placing urgent demands on the infant immune system. 

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Mandates provide a relatively cost-effective strategy to increase vaccinate rates. Since 2014, five Australian states have implemented No Jab No Play (NJPlay) policies that require children to be fully immunised to attend early childhood education and childcare services. In Western Australia, where this study was conducted, NJNPlay legislation was enacted in 2019. 

Research

The Raine Study is a long-running study looking at the health and well-being of a group of Western Australian families for over 35 years. Participants are at the heart of the study, shaping its research direction and communication. While participants have previously contributed to research grant development, they had not been directly involved in setting the Raine Study’s overall research agenda.

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Peanut allergy is the most common food allergy in Australian school-aged children and is rarely outgrown. Access to oral immunotherapy (OIT), a disease-modifying treatment for food allergy, is limited in many regions of the world, including Australia.

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A MenABCWY vaccine containing 4CMenB and MenACWY-CRM vaccine components has been developed to protect against the 5 meningococcal serogroups that cause most invasive disease cases.

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Bacille Calmette-Guérin (BCG) vaccination has off-target (non-specific) effects that are associated with protection against unrelated infections and decreased all-cause mortality in infants. We aimed to determine whether BCG vaccination prevents febrile and respiratory infections in adults.

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Pregnant women are advised to take folic acid (FA) supplements before conception and during the first trimester of pregnancy. Many women continue FA supplementation throughout pregnancy, and concerns have been raised about associations between excessive FA intake and adverse maternal and child health outcomes.

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Research suggests there is considerable opportunity to improve children's movement behaviors while they are being cared for by their grandparents. An understanding of the extent to which grandparent practices facilitate children's engagement in physical activity is critical to the development of health interventions targeting grandparent caregivers.

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Young people’s use of mobile phones and access to the Internet has increased dramatically in the last decade, especially among those aged 9–15 years. Young people now rely on information and communication technology for much of their social interaction, which can have both positive and negative effects on their social and emotional well-being. Of particular concern is the extent to which digital technology (DT) provides opportunities for cyberbullying. 

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Although many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers. 

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A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome

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The analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially...

People

Feilman Fellow; Head, Precision Health Research and Head, Translational Intelligence

Research

An 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. 

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SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions.

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We investigated the relationship between the sensitivity of hundreds of cell lines to hundreds of drugs, and the relative expression levels of the targets