Rod A. Lea
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View article: Genome-wide association study identifies novel variants in olfactory, vitamin A, vitamin B, and cadherin pathways associated with learning and memory
Genome-wide association study identifies novel variants in olfactory, vitamin A, vitamin B, and cadherin pathways associated with learning and memory Open
Learning and memory, as fundamental components of human cognition, are heritable traits that are highly variable between individuals and within populations. Investigation into the genetic basis of cognition is a prominent area of research,…
View article: Epstein–Barr Virus, Lower Vitamin D, Low Sun Exposure, and <i><scp>HLA</scp>‐<scp>DRB1</scp>*1501</i> Risk Variant Share Common Epigenetic Pathways Leading to Multiple Sclerosis Onset
Epstein–Barr Virus, Lower Vitamin D, Low Sun Exposure, and <i><span>HLA</span>‐<span>DRB1</span>*1501</i> Risk Variant Share Common Epigenetic Pathways Leading to Multiple Sclerosis Onset Open
Objectives Multiple sclerosis (MS) onset risk factors include Epstein–Barr virus (EBV) indices (including host response), lower serum 25‐vitamin D (25(OH)D) levels, low sun exposure, and HLA‐DRB1*1501 . The underlying molecular mechanisms …
View article: Pharmacogenomics-Driven Multimodal Data Integration Improves Predictions of Adverse Drug Reactions in Cancer Patients using Machine Learning
Pharmacogenomics-Driven Multimodal Data Integration Improves Predictions of Adverse Drug Reactions in Cancer Patients using Machine Learning Open
Accurately predicting adverse drug reactions (ADRs) in cancer remains challenging. We applied a pharmacogenomics-driven machine learning framework that integrates genomic, environmental, and comorbidity data to enhance ADR prediction. Usin…
View article: Gene-Based Burden Testing of Rare Variants in Hemiplegic Migraine: A Computational Approach to Uncover the Genetic Architecture of a Rare Brain Disorder
Gene-Based Burden Testing of Rare Variants in Hemiplegic Migraine: A Computational Approach to Uncover the Genetic Architecture of a Rare Brain Disorder Open
Background: HM is a rare, severe form of migraine with aura, characterised by motor weakness and strongly influenced by genetic factors affecting the brain. While pathogenic variants in CACNA1A, ATP1A2, and SCN1A genes have been implicated…
View article: A longitudinal investigation of the cerebral venous hemodynamics in multiple sclerosis using computational fluid dynamics
A longitudinal investigation of the cerebral venous hemodynamics in multiple sclerosis using computational fluid dynamics Open
The findings of this study suggest that changes in the cerebral venous system could potentially be related to the pathophysiology of MS, however, further investigation is required.
View article: New composite phenotypes enhance chronic kidney disease classification and genetic associations
New composite phenotypes enhance chronic kidney disease classification and genetic associations Open
Chronic kidney disease (CKD) is a multifactorial condition driven by diverse etiologies that lead to a gradual loss of kidney function. Although genome-wide association studies (GWAS) have identified numerous genetic loci linked to CKD, a …
View article: Regional autozygosity association with albumin-to-creatinine ratio reveals a novel FTO region in an Indigenous Australian population
Regional autozygosity association with albumin-to-creatinine ratio reveals a novel FTO region in an Indigenous Australian population Open
The genetic distinctiveness of Indigenous Australian populations is well established, yet the Tiwi population remains underrepresented in genetic research. Due to their prolonged geographic isolation, these populations are prone to increas…
View article: <scp>PathVar</scp>: A Customisable <scp>NGS</scp> Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine
<span>PathVar</span>: A Customisable <span>NGS</span> Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine Open
The exponential growth of next‐generation sequencing (NGS) data requires innovative bioinformatics approaches to unravel the genetic underpinnings of diseases. Hemiplegic migraine (HM), a debilitating neurological disorder with a genetic b…
View article: Longitudinal epidemiology of multiple sclerosis over 60 years in Newcastle, Australia: 1961 to 2021
Longitudinal epidemiology of multiple sclerosis over 60 years in Newcastle, Australia: 1961 to 2021 Open
The Newcastle region continues to be a high frequency zone for MS. The incidence rate from onset is significantly increased from previous estimates, but incidence rate from diagnosis is stable. Prevalence and incidence sex ratios have stab…
View article: A multi-phenotype approach implicates<i>SH2B3</i>in the genetics of chronic kidney disease
A multi-phenotype approach implicates<i>SH2B3</i>in the genetics of chronic kidney disease Open
Chronic kidney disease (CKD) is a complex condition with diverse underlying causes that lead to a progressive decline in kidney function. Genome-wide association studies (GWASs) have identified numerous genetic loci associated with CKD, ye…
View article: Identification of Polymorphisms in EAAT1 Glutamate Transporter Gene SLC1A3 Associated with Reduced Migraine Risk
Identification of Polymorphisms in EAAT1 Glutamate Transporter Gene SLC1A3 Associated with Reduced Migraine Risk Open
Dysfunction in ion channels or processes involved in maintaining ionic homeostasis is thought to lower the threshold for cortical spreading depression (CSD), and plays a role in susceptibility to associated neurological disorders, includin…
View article: Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches
Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches Open
Migraine is a severe, debilitating neurovascular disorder. Hemiplegic migraine (HM) is a rare and debilitating neurological condition with a strong genetic basis. Sequencing technologies have improved the diagnosis and our understanding of…
View article: The immune cell transcriptome is modulated by vitamin D3 supplementation in people with a first demyelinating event participating in a randomized placebo-controlled trial
The immune cell transcriptome is modulated by vitamin D3 supplementation in people with a first demyelinating event participating in a randomized placebo-controlled trial Open
Vitamin D deficiency is a risk factor for developing multiple sclerosis. The PrevANZ trial was conducted to determine if vitamin D3 supplementation can prevent recurrent disease activity in people with a first demyelinating event. As a sub…
View article: Improvement of the thalamocortical white matter network in people with stable treated relapsing–remitting multiple sclerosis over time
Improvement of the thalamocortical white matter network in people with stable treated relapsing–remitting multiple sclerosis over time Open
Advanced imaging techniques (tractography) enable the mapping of white matter (WM) pathways and the understanding of brain connectivity patterns. We combined tractography with a network‐based approach to examine WM microstructure on a netw…
View article: Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study
Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study Open
Background Chronic kidney disease (CKD) is highly prevalent among Indigenous Australians, especially those in remote regions. The Tiwi population has been isolated from mainland Australia for millennia and exhibits unique genetic character…
View article: Transcriptomics identifies blunted immunomodulatory effects of vitamin D in people with multiple sclerosis
Transcriptomics identifies blunted immunomodulatory effects of vitamin D in people with multiple sclerosis Open
Vitamin D deficiency is a risk factor for developing multiple sclerosis (MS). However, the immune effects of vitamin D in people with MS are not well understood. We analyzed transcriptomic datasets generated by RNA sequencing of immune cel…
View article: P609: Improving genome diagnostics of hemiplegic migraine
P609: Improving genome diagnostics of hemiplegic migraine Open
Hemiplegic migraine (HM) is a rare and debilitating neurological condition with a strong genetic basis. Advances in whole exome sequencing (WES) have improved the diagnosis and treatment of HM. Candidate gene studies have identified mutati…
View article: HLA-DRB1*15:01 and the <i>MERTK</i> Gene Interact to Selectively Influence the Profile of MERTK-Expressing Monocytes in Both Health and MS
HLA-DRB1*15:01 and the <i>MERTK</i> Gene Interact to Selectively Influence the Profile of MERTK-Expressing Monocytes in Both Health and MS Open
DR15 and MERTK genotype independently influence proportions of CD14+ MERTK+ monocytes in MS. We confirmed previous observations that the MERTK risk SNP rs7422195 is associated with altered MERTK expression in monocytes. We identified that …
View article: Association Study of a Comprehensive Panel of Neuropeptide-Related Polymorphisms Suggest Potential Roles in Verbal Learning and Memory
Association Study of a Comprehensive Panel of Neuropeptide-Related Polymorphisms Suggest Potential Roles in Verbal Learning and Memory Open
Neuropeptides are mostly expressed in regions of the brain responsible for learning and memory and are centrally involved in cognitive pathways. The majority of neuropeptide research has been performed in animal models; with acknowledged d…
View article: A longitudinal analysis of brain volume changes in myelin oligodendrocyte glycoprotein antibody‐associated disease
A longitudinal analysis of brain volume changes in myelin oligodendrocyte glycoprotein antibody‐associated disease Open
Background and Purpose Myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) is a relapsing demyelinating condition. There are several cross‐sectional studies showing evidence of brain atrophy in people with MOGAD (pwMOGA…
View article: Diffusion tensor imaging changes of the cortico-thalamic-striatal tracts correlate with fatigue and disability in people with relapsing-remitting MS
Diffusion tensor imaging changes of the cortico-thalamic-striatal tracts correlate with fatigue and disability in people with relapsing-remitting MS Open
Statistically significant changes in diffusion metrics in WML might be indicative of integrity improvement over two years in CTS tracts in clinically stable pw-RRMS. This finding represents structural changes within lesioned tracts. Measur…
View article: Mitochondrial DNA Analysis in Population Isolates: Challenges and Implications for Human Identification
Mitochondrial DNA Analysis in Population Isolates: Challenges and Implications for Human Identification Open
Purpose of Review Mitochondrial DNA (mtDNA) plays an essential role in forensic science, aiding in human identification especially when dealing with degraded DNA samples or cases devoid of paternal family reference samples. Yet, the nuance…
View article: Dairy and gluten in disease activity in multiple sclerosis
Dairy and gluten in disease activity in multiple sclerosis Open
Background Many diets promoted specifically for multiple sclerosis have been suggested to improve disease activity. Dairy and gluten are two components for which the recommendations vary between these diets. Existing research into the asso…
View article: Exploring the Functional Basis of Epigenetic Aging in Relation to Body Fat Phenotypes in the Norfolk Island Cohort
Exploring the Functional Basis of Epigenetic Aging in Relation to Body Fat Phenotypes in the Norfolk Island Cohort Open
DNA methylation is an epigenetic factor that is modifiable and can change over a lifespan. While many studies have identified methylation sites (CpGs) related to aging, the relationship of these to gene function and age-related disease phe…
View article: Genetic Characterization of Blood Group Antigens for Polynesian Heritage Norfolk Island Residents
Genetic Characterization of Blood Group Antigens for Polynesian Heritage Norfolk Island Residents Open
Improvements in blood group genotyping methods have allowed large scale population-based blood group genetics studies, facilitating the discovery of rare blood group antigens. Norfolk Island, an external and isolated territory of Australia…
View article: DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes
DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes Open
Epigenetic mechanisms can regulate how DNA is expressed independently of sequence and are known to be associated with various diseases. Among those epigenetic mechanisms, DNA methylation (DNAm) is influenced by genotype and the environment…
View article: Evaluation of Cell-Specific Epigenetic Age Acceleration in People With Multiple Sclerosis
Evaluation of Cell-Specific Epigenetic Age Acceleration in People With Multiple Sclerosis Open
This study provides compelling evidence that B cells exhibit marked EAA in MS and supports the hypothesis that premature B-cell immune senescence plays a role in MS. Future MS studies should focus on age-related molecular mechanisms in B c…
View article: Rapid bacterial identification from clinical specimens by using the MinION™ sequencing device: A pilot study
Rapid bacterial identification from clinical specimens by using the MinION™ sequencing device: A pilot study Open
Aims: DNA sequencing is a powerful tool and less time-consuming for bacterial detection and identification.The aim of this study was to compare the application of the Oxford Nanopore MinION™ sequencing device for direct DNA sequencing from…
View article: Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology Open
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition caused by mutations in NOTCH3 and results in a phenotype characterised by recurrent strokes, vascular dementia and migraine…
View article: Conceiving complexity: Biological mechanisms underpinning the lasting effect of pregnancy on multiple sclerosis outcomes
Conceiving complexity: Biological mechanisms underpinning the lasting effect of pregnancy on multiple sclerosis outcomes Open
Multiple sclerosis (MS) is an autoimmune, demyelinating disease with the highest incidence in women of childbearing age. The effect of pregnancy on disease activity and progression is a primary concern for women with MS and their clinical …