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Research

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.

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

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Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.

Research

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.

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We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.

News & Events

Australia’s first draft national guideline for autism diagnosis has today been released for public consultation.

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

Research

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.

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. 

News & Events

Professor Andrew Whitehouse awarded the most prestigious award in the country for young researchers – the 3M Eureka Prize for Emerging Leader in Science.

News & Events

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.

News & Events

A new study led by The Kids Research Institute Australia has found a link between masculine facial features and autism.

News & Events

New research from the Telethon Institute has shown that children with an intellectual disability are up to 10x more likely to be admitted to hospital.

News & Events

South Australian families with babies showing early social and communication differences will be among the first to benefit from a nation-leading early support program, as The Kids Research Institute Australia’s Inklings Program officially launches in South Australia.

News & Events

Autism researcher Professor Andrew Whitehouse has been named this year’s Western Australian of the Year in the HBF Professions category.

News & Events

The Kids Research Institute Australia welcomes today’s Federal Government announcement of a new pilot program to support babies showing early social communication differences in Western Australia.

News & Events

Researchers at The Kids Research Institute Australia and University of Western Australia have recently published data describing the use of an attention training game designed for school-aged children diagnosed with autism spectrum disorder (ASD).

News & Events

The Kids Research Institute Australia has two researchers and an innovative science engagement initiative as finalists in the 2017 Premier’s Science Awards.