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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.

Analysis of the human monocyte-derived macrophage transcriptome and response to lipopolysaccharide provides new insights into genetic aetiology of inflammatory bowel disease.

We propose that this system provides a model for the differentiation and adaptation of monocytes entering the intestinal lamina propria.

Researchers share in almost $1.8 million for groundbreaking child health respiratory research

Three researchers from the Wal-yan Respiratory Research Centre will share in almost $1.8 million in grants to continue groundbreaking research to tackle childhood asthma prevention and lung disease.

BREATH (Building Respiratory Equity for Aboriginal and Torres Strait Islander Health)

Our team aims to optimise lung health early in life to ensure the best possible health outcomes later in life.

Early life arsenic exposure and acute and long-term responses to influenza A infection in mice

Exposure to arsenic in early life has been shown to increase the rate of respiratory infections during infancy, reduce childhood lung function, and increase...

Describing skin health and disease in urban-living Aboriginal children: co-design, development and feasibility testing of the Koolungar Moorditj Healthy Skin pilot project

Indigenous children in colonised nations experience high rates of health disparities linked to historical trauma resulting from displacement and dispossession, as well as ongoing systemic racism. Skin infections and their complications are one such health inequity, with the highest global burden described in remote-living Australian Aboriginal and/or Torres Strait Islander (hereafter respectfully referred to as Aboriginal) children. Yet despite increasing urbanisation, little is known about the skin infection burden for urban-living Aboriginal children.

Western Australia Paediatric Bronchiectasis Cohort

Bronchiectasis is a chronic lung disease that impairs quality of life and reduces life expectancy.

Research Assistant - Infectious Disease Epidemiology

Epidemioloyg infectious disease

Personalised analytics propel rare disease diagnoses

The Kids Research Institute Australia researchers are at the forefront of rapid improvements in the diagnosis of rare diseases.

Computational research helps boost rare disease diagnosis

Researchers at The Kids Research Institute Australia working to provide confident diagnoses for children suffering from rare diseases have created a new computer algorithm to help pinpoint the mutations responsible for the conditions.