Publications by authors named "Rachel Austin"

Introduction: Ocean warming combined with extreme climatic events, such as marine heatwaves and flash flooding events, threaten seagrasses globally. How seagrasses cope with these challenges is uncertain, particularly for range-edge populations of species such as in Shark Bay, Western Australia. Analyzing gene expression while manipulating multiple stressors provides insight into the genetic response and resilience of seagrasses to climate change.

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  • The OCTOVA trial investigated the effectiveness of olaparib (O) compared to weekly paclitaxel (wP) and the combination of olaparib plus cediranib (O + C) for treating recurrent ovarian cancer.
  • The trial involved 139 participants with recurrent ovarian cancer who were previously treated with platinum therapy, aiming to measure progression-free survival (PFS) among the different treatment options.
  • Results indicated that the combination of olaparib and cediranib (O + C) showed improved PFS (5.4 months) compared to olaparib alone (3.7 months), while no significant difference was found between olaparib and weekly paclitaxel.
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Every year, perhaps as much as 800 million tons of hydrocarbons enters the environment; alkanes make up a large percentage of it. Most are transformed by organisms that utilize these molecules as sources of energy and carbon. Both aerobic and anaerobic alkane transformation chemistries exist, capitalizing on the presence of alkanes in both oxic and anoxic environments.

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  • * A study analyzed 28 tumors from 25 patients with variants of uncertain significance (VUS) in MMR genes to evaluate how specific tumor characteristics help classify these genetic variants.
  • * The results reclassified 28% of VUS as likely pathogenic, with the majority confirming features like microsatellite instability and MMR deficiency, suggesting that recognizing these characteristics can enhance clinical decision-making.
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Background And Aims: Rice accounts for around 20% of the calories consumed by humans. Essential nutrients like zinc (Zn) are crucial for rice growth and for populations relying on rice as a staple food. No well-established study method exists.

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  • Many families show unusual cancer clusters but don't fit into known hereditary cancer syndrome categories; they may still carry harmful genetic variants that increase cancer risk.* -
  • In a study of 195 participants with suspected hereditary cancer syndromes, whole-genome sequencing identified pathogenic variants in 5.1% and additional variants with potential health implications in 9.7% of participants.* -
  • The study suggests that using whole-genome sequencing up front is more cost-effective than traditional testing, but broader implementation will hinge on funding decisions and financial perspectives of healthcare payers.*
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Climate change and extreme climatic events, such as marine heatwaves (MHWs), are threatening seagrass ecosystems. Metabolomics can be used to gain insight into early stress responses in seagrasses and help to develop targeted management and conservation measures. We used metabolomics to understand the temporal and mechanistic response of leaf metabolism in seagrasses to climate change.

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  • Routine screening for DNA mismatch repair (MMR) deficiency in certain tumors often results in unresolved cases labeled as suspected Lynch syndrome (SLS), with a study involving 135 such cases across Australia and New Zealand.
  • Targeted sequencing of tumors and matched blood samples revealed that 86.9% of these SLS cases could be classified into specific subtypes, primarily through the detection of double somatic MMR mutations.
  • The research indicates that implementing tumor-focused testing and MLH1 methylation assays in clinical settings can effectively clarify SLS diagnoses, leading to better surveillance and screening for patients.
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Alkanes are the most energy-rich form of carbon and are widely dispersed in the environment. Their transformation by microbes represents a key step in the global carbon cycle. Alkane monooxygenase (AlkB), a membrane-spanning metalloenzyme, converts straight chain alkanes to alcohols in the first step of the microbially-mediated degradation of alkanes, thereby playing a critical role in the global cycling of carbon and the bioremediation of oil.

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The complexity of genetic variant interpretation means that a proportion of individuals who undergo genetic testing for a hereditary cancer syndrome will have their test result reclassified over time. Such a reclassification may involve a clinically significant upgrade or downgrade in pathogenicity, which may have significant implications for medical management. To date, few studies have examined the psychosocial impact of a reclassification in a hereditary cancer syndrome context.

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  • Routine screening for DNA mismatch repair deficiency in colorectal, endometrial, and sebaceous skin tumors has led to many unresolved cases suspected of Lynch syndrome, affecting 135 patients across Australia and New Zealand.
  • Targeted panel sequencing of tumors and matched blood DNA helped resolve 86.9% of these suspected cases by identifying various factors, including epimutations and germline MMR variants, with double somatic mutations being the most common cause.
  • The study suggests that incorporating tumor sequencing and methylation assays into clinical diagnostics could reduce unresolved cases and improve patient surveillance and screening strategies.
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Metallothionein 3 (MT-3) is a cysteine-rich metal-binding protein that is expressed in the mammalian central nervous system and kidney. Various reports have posited a role for MT-3 in regulating the actin cytoskeleton by promoting the assembly of actin filaments. We generated purified, recombinant mouse MT-3 of known metal compositions, either with zinc (Zn), lead (Pb), or copper/zinc (Cu/Zn) bound.

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Metallothioneins (MTs) are a ubiquitous class of small metal-binding proteins involved in metal homeostasis and detoxification. While known for their high affinity for d metal ions, there is a surprising dearth of thermodynamic data on metals binding to MTs. In this study, Zn and Cu binding to mammalian metallothionein-3 (MT-3) were quantified at pH 7.

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Global warming is modifying the phenology, life-history traits and biogeography of species around the world. Evidence of these effects have increased over recent decades; however, we still have a poor understanding of the possible outcomes of their interplay across global climatic gradients, hindering our ability to accurately predict the consequences of climate change in populations and ecosystems. We examined the effect that changes in biogeography can have on the life-history traits of two of the most successful range-extending fish species in the world: the tropical rabbitfishes Siganus fuscescens and Siganus rivulatus.

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Alkane-oxidizing enzymes play an important role in the global carbon cycle. Alkane monooxygenase (AlkB) oxidizes most of the medium-chain length alkanes in the environment. The first AlkB identified was from GPo1 (initially known as ) in the early 1970s, and it continues to be the family member about which the most is known.

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Alkane monooxygenase (AlkB) is a non-heme diiron enzyme that catalyzes the hydroxylation of alkanes. It is commonly found in alkanotrophic organisms that can live on alkanes as their sole source of carbon and energy. Activation of AlkB occurs via two-electron reduction of its diferric active site, which facilitates the binding, activation, and cleavage of molecular oxygen for insertion into an inert CH bond.

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This study aimed to describe the acceptability and perceived barriers and enablers to establish a national registry targeting carriers of pathogenic variants in cancer susceptibility genes from stakeholders' perspectives. Such a registry may effectively target carriers to translate existing research findings into optimised clinical care and provide a population-level resource for further clinical research and new gene and therapy discovery. In-depth interviews were conducted with individuals from four stakeholder groups: carriers of pathogenic variants, healthcare professionals, data custodians from the field of familial cancer, and heads of molecular pathology laboratories.

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Background: This nationwide study assessed the impact of nationally agreed cancer genetics guidelines on use of BRCA1/2 germline testing, risk management advice given by health professionals to women with pathogenic BRCA1/2 variants and uptake of such advice by patients.

Methods: Clinic files of 883 women who had initial proband screens for BRCA1/2 pathogenic variants at 12 familial cancer clinics between July 2008-July 2009 (i.e.

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Interest in understanding the environmental distribution of the alkane monooxygenase (AlkB) enzyme led to the identification of over 100 distinct alkane monooxygenase (AlkB) enzymes containing a covalently bound, or fused, rubredoxin. The rubredoxin-fused AlkB from Dietzia cinnamea was cloned as a full-length protein and as a truncated protein with the rubredoxin domain deleted. A point mutation (V91W) was introduced into the full-length protein, with the goal of assessing how steric bulk in the putative substrate channel might affect selectivity.

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Au nanoparticles (NP) on TiO have been shown to be effective catalysts for selective oxidation reactions by using molecular oxygen. In this work, we have studied the influence of support morphology on the catalytic activity of Au/TiO catalysts. Two TiO anatase supports, a nanoplatelet-shaped material with predominantly the {001} facet exposed and a truncated bipyramidal-shaped nanoparticle with predominantly the {101} facet exposed, were prepared by using a nonaqueous solvothermal method and characterized by using DRIFTS, XPS, and TEM.

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Background: This sub-study of the Australian Genomics Cardiovascular Genetic Disorders Flagship sought to conduct the first nation-wide audit in Australia to establish the current practices across cardiac genetics clinics.

Method: An audit of records of patients with a suspected genetic heart disease (cardiomyopathy, primary arrhythmia, autosomal dominant congenital heart disease) who had a cardiac genetics consultation between 1st January 2016 and 31 July 2018 and were offered a diagnostic genetic test.

Results: This audit included 536 records at multidisciplinary cardiac genetics clinics from 11 public tertiary hospitals across five Australian states.

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Zinc is important in neurogenesis, but excessive levels can cause apoptosis and other pathologies leading to cognitive impairments. Mast cells are present in many brain regions including the hippocampus, an area rich in vesicular zinc. Mast cells contain zinc-rich granules and a well-developed mechanism for uptake of zinc ions; both features point to the potential for a role in zinc homeostasis.

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The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions.

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