Perron Institute for Neurological and Translational Science

Meta-Analysis of ALS Post-Mortem Cerebral Cortex Transcriptome Studies Identifies Robust Shifts in Gene Expression Despite Significant Between-Study Heterogeneity

Background: ALS is characterized by motor neuron failure with potential neurocognitive comorbidity. Cortical neurons, and their support cells, exhibit pathologic features, some of which have been identified in post-mortem transcriptome studies of the cortex from ALS patients and...

Exploring transcriptomic and genomic latent variable correction approaches in differential expression analysis

Abstract Background Differential expression analysis is a central tool for studying the biological processes altered in human diseases via transcriptomic signatures. However, transcriptomic datasets are systematically confounded by latent variables from two distinct sources: unme...

Taking a clinical history in adolescents and adults presenting with seizures or epilepsy

Abstract Despite advances in EEG, neuroimaging, and other diagnostic technologies, a carefully obtained clinical history remains the cornerstone of diagnosis, classification, and treatment planning. However, structured guidance on history‐taking that integrates state‐of‐the‐art e...

Predicting recovery outcomes following mild traumatic brain injury in an Australian community cohort: Results from the Concussion Recovery Study (CREST)

Background Most people recover well following mild traumatic brain injury (mTBI). However, some experience persisting post-concussion symptoms (PPCS) for months or years. Our aims were (i) to evaluate the presence and impact of PPCS on return to functional activities over a 12-mo...

Exploring factors that influence meal management and eating behaviours in people living with Huntington’s disease

Purpose People living with Huntington’s disease (pwHD) experience cognitive and motor changes that affect meal planning, preparation and food consumption. This study explored factors that influence meal management and eating behaviours of pwHD and their families.Methods This is a...

Retrotransposable element derepression distinguishes DNMT3A-mutant from TET2-mutant clonal haematopoiesis

Clonal haematopoiesis (CH) is driven by somatic mutations in haematopoietic stem cells that generate clonal populations detectable in peripheral blood and is present in 10-20% of individuals over the age of 65. Mutations in DNMT3A and TET2 are the most common drivers and have bee...

Vaping and smoking in individuals with eating disorders: associations with diagnoses and behaviors

Abstract Background Smoking commonly co-occurs with eating disorders (EDs) but less is known about the relationship between EDs and vaping. We investigated associations of lifetime vaping and smoking as forms of nicotine use with lifetime ED diagnoses (i.e., anorexia nervosa [AN]...

Towards a deep-learning genomic tool for risk stratification and diagnostic support in sporadic ALS

Abstract Background A variety of common and rare genetic factors have been implicated in the development of amyotrophic lateral sclerosis (ALS), and the evidence is that a genetic component is present in most affected individuals. However, our current understanding of ALS genetic...

Milvexian with Antiplatelet Therapy after Acute Coronary Syndrome Event

BackgroundPatients are at increased risk for recurrent ischemic events after an acute coronary syndrome event. Milvexian, an oral factor XIa inhibitor, may reduce the risk of major adverse clinical events with minimal bleeding risk. MethodsIn this phase 3, randomized, placebo-con...

Design considerations and validation strategies for droplet digital PCR assays targeting exon junctions and rare splice-variant transcripts

Droplet digital PCR is widely recognised for its sensitivity, reproducibility and precision in quantifying target nucleic acid fragments. This technology is crucial in validating gene expression changes across various experimental settings. In particular, droplet digital PCR is h...

Aphasia treatment research: a decision-making tool to guide the design of phased trials from the Collaboration of Aphasia Trialists (CATs) trials for aphasia panel

Background Systematic reviews of randomised controlled trials with meta-analyses indicate that speech and language therapy for aphasia after stroke is effective in improving communication. However, high-quality evidence to identify an intervention’s target population (who), regim...

Issues in the clinical assessment and management of people living with motor neurone disease (MND): a survey of Australian healthcare professionals

Objective: To inform the development of the Australian MND Guideline, this study aimed to identify challenges Australian healthcare professionals (HCPs) face in the clinical assessment and management of people living with MND (plwMND) including where practice varies from evidence...

The pharmacogGENEtics in Youth Depression (GENE-YD) study for personalizing antidepressant pharmacotherapy for young Western Australians – A feasibility study

Abstract Pharmacogenetic (PGx) testing to guide antidepressant prescribing is becoming increasingly available. However, its uptake into routine psychiatric practice for young people remains limited due to insufficient youth-specific evidence and uncertainty regarding optimal tria...