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Functional genomics in cancer immunotherapy: Computational approaches for biomarker and drug discovery

This review explores computational strategies to yield biological insight into the processes involved in the immunotherapeutic response

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care

Metagenomic Characterisation of the Gut Microbiome and Effect of Complementary Feeding on Bifidobacterium spp. in Australian Infants

Complementary feeding induces dramatic ecological shifts in the infant gut microbiota toward more diverse compositions and functional metabolic capacities, with potential implications for immune and metabolic health. The aim of this study was to examine whether the age at which solid foods are introduced differentially affects the microbiota in predominantly breastfed infants compared with predominantly formula-fed infants. 

Indigenous Australian genomes show deep structure and rich novel variation

The Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama-Nyungan). This large collection of Indigenous Australian genomes was made possible by careful community engagement and consultation.

CD4+ T cells drive an inflammatory, TNF-α/IFN-rich tumor microenvironment responsive to chemotherapy

While chemotherapy remains the first-line treatment for many cancers, it is still unclear what distinguishes responders from non-responders. Here, we characterize the chemotherapy-responsive tumor microenvironment in mice, using RNA sequencing on tumors before and after cyclophosphamide, and compare the gene expression profiles of responders with progressors.

Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia

To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.

Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based study

Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.

Translational Intelligence

The aim of the Translational Intelligence team is to understand how individual bases in our genome predispose, alter and interact in normal and disease contexts.

What’s in a name?

In WA, 60,000 kids live with a rare disease, and of those about half do not have a diagnosis. At The Kids, researchers are leading the charge in developing a method to identify genetic variations, so that kids like Charlotte can get answers.