Search the site

Rare Diseases

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.

News & Events

Find out more about our brand new Showcase Projects

Our showcase projects are a demonstration of how we at The Kids Research Institute Australia are committed to a new way of working.

Centre of Excellence

The Rio Tinto Children’s Diabetes Centre; a Breakthrough T1D Centre of Excellence at The Kids Research Institute Australia and Perth Children’s Hospital (PCH), is a global hub for research into type 1 diabetes (T1D) in children.

Research

Burkholderia pseudomallei evades Nramp1 (Slc11a1)- and NADPH oxidase-mediated killing in macrophages and exhibits Nramp1-dependent virulence gene expression

Here we show that transfected macrophages stably expressing wild-type Nramp1 (Nramp1+) control the net replication of B. thailandensis, but not B. pseudomallei.

Research

Walkern Katatdjin (Rainbow Knowledge)

Shakara Yael Bep Liddelow-Hunt Perry Uink BPhil(Hons) BPsych (Hons) MPsych (Clin) PhD BPsych(Hons.), MAppPsy(Clinical), PhD Research Assistant; PhD

Research

Increasing airway obstruction through life following bronchopulmonary dysplasia: a meta-analysis

Few studies exist investigating lung function trajectories of those born preterm; however growing evidence suggests some individuals experience increasing airway obstruction throughout life. Here we use the studies identified in a recent systematic review to provide the first meta-analysis investigating the impact of preterm birth on airway obstruction measured by the forced expiratory volume in 1 s (FEV1) to forced vital capacity (FVC) ratio.

Research

Feasibility of upper airway collapsibility measurements in anesthetized children

Patients with a propensity for upper airway obstruction, including those with obstructive sleep apnea (OSA), are vulnerable in the perioperative period. OSA is an increasingly common disorder in children and, when present, is associated with an increased risk of perioperative respiratory adverse events (PRAE),1 morbidity, and mortality. Therefore, identifying at-risk patients is vital to provide tailored perioperative anesthetic management.

Research

Reporting Both Unadjusted and Adjusted Estimates Is Essential to the Interpretation of Randomized Clinical Trial Results - Reply

Andrew Matt Videos Whitehouse Watch and listen to Andrew Cooper PhD BCA Marketing, BSc Statistics and Applied Statistics, PhD Deputy Director (

Research

Birth outcomes in Aboriginal mother–infant pairs from the Northern Territory, Australia, who received 23-valent polysaccharide pneumococcal vaccination during pregnancy

We found a numerically higher rate of preterm births among women who received 23vPPV in pregnancy compared to unvaccinated pregnant women

Tourette Syndrome

Tourette syndrome is a neurodevelopmental disorder characterised by uncontrollable movements and vocalisations known as tics.