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Research

Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: Findings from the pregnancy and childhood epigenetics (PACE) consortium

we meta-analysed the association between pre-pregnancy maternal BMI and methylation at over 450,000 sites in newborn blood DNA, across 19 cohorts.

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Genome-Wide Analysis of Genetic Risk Factors for Rheumatic Heart Disease in Aboriginal Australians Provides Support for Pathogenic Molecular Mimicry

Rheumatic heart disease (RHD) after group A streptococcus (GAS) infections is heritable and prevalent in Indigenous populations. Molecular mimicry between human and GAS proteins triggers proinflammatory cardiac valve-reactive T cells.

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Mental health problems among 4–17-year-olds with hearing problems: results from a nationally representative study

Clinicians caring for children and young people with hearing problems should be alert for heightened risk of specific mental health problems based on age and the nature of hearing problems.

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Early introduction of food reduces food allergy – Pro and Con

When an infant is developmentally ready, a variety of nutritious foods should be introduced including the ‘more allergenic’ foods during infancy

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A Phase I Study of the CDK4/6 Inhibitor Ribociclib (LEE011) in Pediatric Patients with Malignant Rhabdoid Tumors, Neuroblastoma, and Other Solid Tumors

In this. i study the MTD and RP2D, safety, PK, and preliminary activity of single-agent ribociclib were investigated in patients with neuroblastoma.

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The collective impact of rare diseases in Western Australia: An estimate using a population-based cohort

This cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs

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Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015

We identified a high proportion of cases without known cause, highlighting the need for clinicians to carefully investigate all possibilities, including emerging infections.

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Initiating an undiagnosed diseases program in the Western Australian public health system

We describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program - WA

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Candidate gene analysis supports a role for polymorphisms at TCF7L2 as risk factors for type 2 diabetes in Sudan

Multiethnic associations between T2D and SNPs at TCF7L2, CAPN10 and HHEX extend to Sub-Saharan Africa, specifically Sudan