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IFNβ Is a Potent Adjuvant for Cancer Vaccination StrategiesCancer vaccination drives the generation of anti-tumor T cell immunity and can be enhanced by the inclusion of effective immune adjuvants such as type I interferons (IFNs). Whilst type I IFNs have been shown to promote cross-priming of T cells, the role of individual subtypes remains unclear. Here we systematically compared the capacity of distinct type I IFN subtypes to enhance T cell responses to a whole-cell vaccination strategy in a pre-clinical murine model.
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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
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Western Australian DNA and Longitudinal Serum Bank for Weight RegulationThis resource will allow researchers to carry out studies which will look at the genetic causes of excessive weight gain and identify biomarkers
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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyGermline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes.
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Cardiometabolic disease risk markers are increased following burn injury in childrenBurn injury in children causes prolonged systemic effects on physiology and metabolism leading to increased morbidity and mortality, yet much remains undefined regarding the metabolic trajectory towards specific health outcomes.
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Intravenous Iron-Induced Hypophosphatemia in Surgical PatientsThis study explores the incidence of preoperative hypophosphatemia and whether hypophosphatemia may have affected patient or trial outcomes for those who received ferric carboxymaltose
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Systemic long-term metabolic effects of acute non-severe paediatric burn injuryA growing body of evidence supports the concept of a systemic response to non-severe thermal trauma. This provokes an immunosuppressed state that predisposes paediatric patients to poor recovery and increased risk of secondary morbidity.
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Non-severe burn injury increases cancer incidence in mice and has long-term impacts on the activation and function of T cellsRecent evidence suggests that burn patients are at increased risk of hospital admission for infection, mental health conditions, cardiovascular disease and cancer for many years after discharge for the burn injury itself.
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
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Can exercise training Improve health in young people with type 2 diabetes?We are studying exercise in young people with T2DM and obese young people at risk of developing type 2 diabetes
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A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipThe Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing and functional genomics to resolve variants of uncertain significance in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease.
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‘It’s been a lifelong thing for me’: parents’ experiences of facilitating a healthy lifestyle for their children with severe obesityFor parents and guardians, assisting children/adolescents with severe obesity to lose weight is often a key objective but a complex and difficult challenge. Our aim in this study was to explore parents' (and guardians') perspectives on the challenges they have faced in assisting their children/adolescents with severe obesity to lead a healthy lifestyle.
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CRISPR gene editing and stem cell disease modelling: a new path to genetic and rare disease patient diagnosisVanessa Timo Fear Lassmann BSc (Hons), PhD BSc (Hons) MSc PhD Head, Translational Genetics Team Feilman Fellow; Head, Precision Health Research and
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Outcomes and experiences of families with children with type 1 diabetes on insulin pumps through subsidised pump access programs in Western AustraliaIn Australia, access to insulin pump therapy for children with type 1 diabetes is predominantly restricted to families with private health insurance. In an attempt to improve equity, additional subsidised pathways exist which provide pumps to families with reduced financial resources. We aimed to describe the outcomes and experiences of families with children commenced on pumps through these subsidised pathways in Western Australia.
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A surge in serum mucosal cytokines associated with seroconversion in children at risk for type 1 diabetesAutoantibodies to pancreatic islet antigens identify young children at high risk of type 1 diabetes. On a background of genetic susceptibility, islet autoimmunity is thought to be driven by environmental factors, of which enteric viruses are prime candidates.
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Assessment of cardiometabolic risk in children in population studies: underpinning developmental origins of health and disease mother–offspring cohort studiesPregnancy and birth cohorts have been utilised extensively to investigate the developmental origins of health and disease, particularly in relation to...
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Antecedent hypoglycaemia does not diminish the glycaemia-increasing effect and glucoregulatory responses of a 10 s sprint in people with type 1 diabetesThe purpose of this study was to investigate whether antecedent hypoglycaemia impairs the glycaemia-raising effect of a 10 s sprint in individuals with type...
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Genome-wide methylation analysis identifies differentially methylated CpG loci associated with severe obesity in childhood.This study identifies widespread DNA methylation changes in whole blood associated with childhood obesity.
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Analysis of glucose responses to automated insulin suspension with sensor-augmented pump therapyThe advent of sensor-augmented pump therapy with a low-glucose suspend (LGS) function.