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Research

Rheumatic Heart Disease Control Programs, Registers, and Access to Care

Rheumatic heart disease (RHD) control programs have been recommended by the World Health Organization as the mainstay of reducing the burden of RHD for nearly half a century. Programs should be structured around a disease register of people living with RHD and to support delivery of secondary prophylaxis.

Research

Gender differences in the experience of psychotic-like experiences and their associated factors: A study of adolescents from the general population

"Psychotic-Like Experiences" (PLEs) are common in the general population. While they are usually transient and resolve spontaneously, they can be distressing and signify increased risk for later psychosis or other psychopathology. It is important to investigate factors associated with PLEs which could be targeted to reduce their prevalence and impact. Males and females are known to experience PLEs differently, but any gender differences in the relationships between PLEs and other, potentially targetable, factors are currently unknown.

Research

Improving equity through school leadership and student wellbeing. 2021. ACEL Monograph #61 - ‘The William Walker Oration 2021

Citation: Cross D. Improving equity through school leadership and student wellbeing. 2021. ACEL Monograph #61 - ‘The William Walker Oration 2021.

Research

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.

Research

Lipopolysaccharide-induced interferon response networks at birth are predictive of severe viral lower respiratory infections in the first year of life

Appropriate innate immune function is essential to limit pathogenesis and severity of severe lower respiratory infections (sLRI) during infancy, a leading cause of hospitalization and risk factor for subsequent asthma in this age group.

Research

Resilience and Posttraumatic Growth after Burn: A Review of Barriers, Enablers, and Interventions to Improve Psychological Recovery

Burn injuries are traumatic experiences that can detrimentally impact an individual’s psychological and emotional wellbeing. Despite this, some survivors adapt to psychosocial challenges better than others despite similar characteristics relating to the burn.

Research

Circulating Memory B Cells in Early Multiple Sclerosis Exhibit Increased IgA+ Cells, Globally Decreased BAFF-R Expression and an EBV-Related IgM+ Cell Signature

Multiple sclerosis (MS) is an immune-mediated inflammatory disease of the central nervous system that results in demyelination of axons, inefficient signal transmission and reduced muscular mobility. Recent findings suggest that B cells play a significant role in disease development and pathology. To further explore this, B cell profiles in peripheral blood from 28 treatment-naive patients with early MS were assessed using flow cytometry and compared to 17 healthy controls.

Research

An expanded phenotype centric benchmark of variant prioritisation tools

Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.

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

In silico evolution of nucleic acid-binding proteins from a nonfunctional scaffold

Directed evolution emulates the process of natural selection to produce proteins with improved or altered functions. These approaches have proven to be very powerful but are technically challenging and particularly time and resource intensive. To bypass these limitations, we constructed a system to perform the entire process of directed evolution in silico.