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Research
Dietary patterns and markers for the metabolic syndrome in Australian adolescentsOverweight and other risk factors for cardiovascular disease (CVD) as well as their clustering, are increasingly prevalent among adolescents.
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A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Can linked emergency department data help assess the out-of-hospital burden of acute lower respiratory infectionsThere is a lack of data on the out-of-hospital burden of acute lower respiratory infections (ALRI) in developed countries.
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Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication DatabaseSince the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).
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The reliability of a food frequency questionnaire for use among adolescentsAccurate measurement of dietary intake is essential for understanding the long-term effects of adolescent diet on chronic disease risk.
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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiencyOver 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
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Correlation between clinical severity in patients with Rett syndromeRett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.
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Use of privacy-preserving record linkage to examine the dispensing of pharmaceutical benefits scheme medicines to pregnant women in Western AustraliaMedications are commonly used during pregnancy to manage pre-existing conditions and conditions that arise during pregnancy. However, not all medications are safe to use in pregnancy. This study utilized privacy-preserving record linkage (PPRL) to examine medications dispensed under the national Pharmaceutical Benefits Scheme (PBS) to pregnant women in Western Australia (WA) overall and by medication safety category.
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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseGenomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.
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Preclinical efficacy of azacitidine and venetoclax for infant KMT2A-rearranged acute lymphoblastic leukemia reveals a new therapeutic strategyInfants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have a dismal prognosis. Survival outcomes have remained static in recent decades despite treatment intensification and novel therapies are urgently required.
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Rett syndrome in Australia: a review of the epidemiologyTo examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).
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Systematic analysis of transcription start sites in avian developmentCAGE in combination with single-molecule sequencing technology allows mapping of TSSs and genome-wide capture of promoter activities state cell populations.
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Cohort Profile: The ORIGINS pregnancy and birth cohortDesiree Doctor Jackie Susan Lisa Zenobia Silva Davis Prescott Gibson Talati MBBS, FRACP, MPH, PhD BSc (Hons) MBBS BMedSci PhD FRACP BA (Hons), MPsych
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Integrative CAGE and DNA Methylation Profiling Identify Epigenetically Regulated Genes in NSCLCEpigenetically regulated genes have a great theranostic potential, especially in tumors with no apparent driver mutations.
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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic 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".
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Transcriptome Analysis Uncovers a Growth-Promoting Activity of Orosomucoid-1 on HepatocytesOrm1 is induced in response to hepatic injury and executes liver regeneration by activating cell cycle progression in hepatocytes
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The effect of CFTR modulators on structural lung disease in cystic fibrosisNewly developed quantitative chest computed tomography (CT) outcomes designed specifically to assess structural abnormalities related to cystic fibrosis (CF) lung disease are now available. CFTR modulators potentially can reduce some structural lung abnormalities. We aimed to investigate the effect of CFTR modulators on structural lung disease progression using different quantitative CT analysis methods specific for people with CF (PwCF).
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Elucidating the interaction of CF airway epithelial cells and rhinovirus: Using the host-pathogen relationship to identify future therapeutic strategiesA better understanding of the innate immune responses by CF airway epithelial cells is needed to identify why viral infections are more severe in CF
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Acceptability of OP/Na swabbing for SARS-CoV-2: a prospective observational cohort surveillance study in Western Australian schoolsWhen the COVID-19 pandemic was declared, Governments responded with lockdown and isolation measures to combat viral spread, including the closure of many schools. More than a year later, widespread screening for SARS-CoV-2 is critical to allow schools and other institutions to remain open.
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Demographic and clinical predictors of vitamin D status in pregnant women tested for deficiency in Western AustraliaThis study aimed to describe the vitamin D status of pregnant women in Western Australia and identify predictors of deficiency in pregnancy. A cross-sectional study was conducted using linked data from statewide administrative data collections.