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Research

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

Genome-wide association studies (GWASs) have been successful at identifying single-nucleotide polymorphisms (SNPs) highly associated with common traits...

Research

Vitamin D 3 deficiency enhances allergen-induced lymphocyte responses in a mouse model of allergic airway disease

In this study, using a mouse model, we determined whether vitamin D deficiency in utero and during early life modulated the severity of asthma.

Research

Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.

Research

The diagnostic odyssey to Rett syndrome: The experience of an Australian family

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

Research

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling

Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adult

Research

Geographic information systems and applied spatial statistics are efficient

Applied Spatial Statistics used in conjunction with geographic information systems (GIS) provide an efficient tool for the surveillance of diseases

Research

The risk of cerebral palsy in survivors of multiple pregnancies with cofetal loss or death

This study investigated the risks for cerebral palsy in survivors of multiple pregnancies with cofetal loss (< 20 weeks' gestation) or cofetal death...

Aboriginal Health and Wellbeing

The Aboriginal Health and Wellbeing Team follows an holistic definition of Aboriginal Health which means that health is not just the physical wellbeing of an individual but includes the social, emotional and cultural wellbeing of the whole community.

Research

Indirect effects of the COVID-19 pandemic on malaria intervention coverage, morbidity, and mortality in Africa: a geospatial modelling analysis

Substantial progress has been made in reducing the burden of malaria in Africa since 2000, but those gains could be jeopardised if the COVID-19 pandemic affects the availability of key malaria control interventions. The aim of this study was to evaluate plausible effects on malaria incidence and mortality under different levels of disruption to malaria control.

Research

Temporally restricted activation of IFNβ signaling determines response to immune checkpoint therapy

The biological determinants of the response to immune checkpoint blockade (ICB) in cancer remain incompletely understood. Little is known about dynamic biological events that underpin therapeutic efficacy due to the inability to frequently sample tumours in patients.