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Research

Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities

Reading Disability is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies.

Research

Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease. We explored parent's and child's health-related quality of life, parents' perceived understanding of a genomic testing study, satisfaction with information and the study and decisional regret to undertake genomic testing.

Research

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

Research

Inhibition of the master regulator of Listeria monocytogenes virulence enables bacterial clearance from spacious replication vacuoles in infected macrophages

A hallmark of Listeria (L.) monocytogenes pathogenesis is bacterial escape from maturing entry vacuoles, which is required for rapid bacterial replication in the host cell cytoplasm and cell-to-cell spread. The bacterial transcriptional activator PrfA controls expression of key virulence factors that enable exploitation of this intracellular niche.

Research

Seasonal variation in fetal growth: Accounting for sociodemographic, biological, and environmental exposures

We sought to investigate seasonal variation in fetal growth, accounting for important sociodemographic, biological, and environmental exposures.

Research

Mind The Distance

Yael Jacinta Penelope Keely Bep Amy Helen Claire Perry Freeman Strauss Bebbington Uink Finlay-Jones Milroy McIlroy BPsych (Hons) MPsych (Clin) PhD

Research

Effectiveness of pneumococcal conjugate vaccine against hospital admissions for pneumonia in Australian children

Reductions in pneumonia-coded hospital admissions in unvaccinated children predominated in non-Aboriginal children with low incidence of pneumonia

News & Events

April's epic swim

April Welsh loves a challenge. Diagnosed with diabetes just before turning 4, the 26-year-old recently she was part of a four-person team that conquered the Rottnest Channel 19.7km open water swim.

Research

RE-AIM Evaluation of the Alcohol and Pregnancy Project: Educational Resources to Inform Health Professionals

The objective was to evaluate the Alcohol and Pregnancy Project that provided health professionals in Western Australia (WA) with educational resources

Research

Australian Childhood Diabetes DNA Repository

Collecting DNA samples from Australian families affected by diabetes.