Search
Research
EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMOEllis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.
Research
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanismsCornelia 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.
Within the Institute, we have a commitment to the highest standards of research with pro-active staff ensuring the lab environment is safe and secure.
In 2006, when a Japanese scientist building on the earlier work of a British biologist discovered a way to reprogram adult cells into other cell types – making them ‘pluripotent’ – the scientific world was entranced.
A unique initiative is combining research, action and advocacy to deliver evidence- based improvements to the health and wellbeing of Aboriginal families in Perth and Western Australia’s north west.
Flow cytometry is a technology used to measure complex cell phenotype and functions. Our Flow Facility is equipped with 3 flow cytometers/analysers, one...
An Australian-first study, funded by Perth Children's Hospital Foundation, demonstrating the effectiveness of a new immunisation against respiratory syncytial virus (RSV) for babies found it to be almost 90 per cent effective in reducing hospitalisation rates.
Alarming statistics laying bare the social emotional wellbeing and mental health challenges facing Aboriginal and Torres Strait Islander LGBTQA+ youth are driving a multi-partner program to provide them with greater support.
More than 3,000 skin checks have been undertaken as part of a large clinical trial in WA’s Kimberley region aimed at halving the burden of skin sores in school-aged Aboriginal children.
It’s a brave move to upend your entire family to seek a fresh start – or safety – in a new country: even braver when the country you’re moving to has a completely different language, structure and cultural outlook.