A5061300992- Multiple Sclerosis Research Studies
- T-cell and B-cell Immunology
- Gene expression and cancer classification
- RNA regulation and disease
- Immunotherapy and Immune Responses
- Malaria Research and Control
- T-cell and Retrovirus Studies
- Pain Management and Opioid Use
- Blood groups and transfusion
- Genetic Associations and Epidemiology
- Pharmacological Effects and Toxicity Studies
- RNA Research and Splicing
- RNA modifications and cancer
- Systemic Lupus Erythematosus Research
- Salivary Gland Disorders and Functions
- Molecular Biology Techniques and Applications
- Pediatric Pain Management Techniques
- Immune Cell Function and Interaction
- Genomics and Rare Diseases
- Rheumatoid Arthritis Research and Therapies
- Immune Response and Inflammation
- Cytokine Signaling Pathways and Interactions
- Parkinson's Disease Mechanisms and Treatments
- Genomic variations and chromosomal abnormalities
- Mosquito-borne diseases and control
Florey Institute of Neuroscience and Mental Health
2010-2025
The University of Melbourne
2010-2025
The Royal Melbourne Hospital
1995-2023
Peter MacCallum Cancer Centre
2023
St Vincent's Hospital
2023
GlaxoSmithKline (United Kingdom)
2010-2015
Age UK
2014
University of Bristol
2013
GlaxoSmithKline (India)
2012
Triangle
2011
<b>Background: </b> There is no consensus method for determining progression of disability in patients with multiple sclerosis (MS) when each patient has had only a single assessment the course disease. <b>Methods: Using data from two large longitudinal databases, authors tested whether cross-sectional assessments are representative disease severity as whole. An algorithm, Multiple Sclerosis Severity Score (MSSS), which relates scores on Expanded Disability Status Scale (EDSS) to...
[ 11 C]PBR28 binds the 18-kDa Translocator Protein (TSPO) and is used in positron emission tomography (PET) to detect microglial activation. However, quantitative interpretations of signal are confounded by large interindividual variability binding affinity, which displays a trimodal distribution compatible with codominant genetic trait. Here, we tested directly for an underlying mechanism explain this. Binding affinity PBR28 was measured platelets isolated from 41 human subjects association...
Abstract McLeod syndrome is caused by mutations of XK , an X‐chromosomal gene unknown function. Originally defined as a peculiar Kell blood group variant, the disease affects multiple organs, including nervous system, but certainly underdiagnosed. We analyzed and clinical findings 22 affected men, aged 27 to 72 years. Fifteen different were found, nine which novel, one eponymous case McLeod. Their common result predicted absence or truncation protein. All patients showed elevated levels...
Multiple sclerosis (MS) is an autoimmune disease with a genetic component, caused at least in part by aberrant lymphocyte activity. The whole blood mRNA transcriptome was measured for 99 untreated MS patients: 43 primary progressive MS, 20 secondary 36 relapsing remitting and 45 age-matched healthy controls. ANZgene Sclerosis Genetics Consortium genotyped more than 300 000 SNPs 115 of these samples. Transcription from genes on translational regulation, oxidative phosphorylation, immune...
We conducted an association study across the human leukocyte antigen (HLA) complex to identify loci associated with multiple sclerosis (MS). Comparing 1927 SNPs in 1618 MS cases and 3413 controls of European ancestry, we identified seven that were independently conditional on others (each ). All associations significant independent replication cohort 2212 2251 () highly combined dataset (). The included proxies for HLA-DRB1*15:01 HLA-DRB1*03:01, moderate linkage disequilibrium (LD)...
Tafenoquine (TQ) and primaquine (PQ) are 8-aminoquinolines (8-AQ) with anti-hypnozoite activity against vivax malaria. PQ is the only FDA-approved medicine for preventing relapsing Plasmodium infection TQ currently in phase 3 clinical trials same indication. Recent studies have provided evidence that cytochrome P450 (CYP) metabolism via CYP2D6 plays a role efficacy P. suggested this effect may extend to other 8-AQs, including TQ. Here, retrospective pharmacogenetic (PGx) investigation was...
Background: The role played by genetic factors in influencing the clinical course of multiple sclerosis (MS) is not yet well established. Objective: We aimed to identify variants associated with progressive MS (PrMS). Methods: conducted a genome-wide association study (GWAS) 197 patients PrMS and 234 controls Italian origin. tested top 20 single nucleotide polymorphisms (SNPs) suggestive evidence ( p-value<10 −4 ) two independent sets primary cases controls. Results: identified...
Background Agents promoting oligodendrocyte precursor cell differentiation have the potential to restore halted and/or delayed remyelination in patients with multiple sclerosis. However, few therapeutic targets been identified. The objective of this study was identify novel for promotion and characterize their activity vitro vivo. Methods A high-content screening assay primary rat cells used screen GSK-proprietary annotated libraries remyelination-promoting compounds. Compounds were further...
Fragile X‐associated tremor/ataxia syndrome (FXTAS) affects older males carrying premutation, that is, expansions of the CGG repeat (in 55–200 range), in FMR1 gene. The neurological changes are linked to excessive messenger RNA (mRNA), becoming toxic through a ‘gain‐of‐function’. Because elevated levels this mRNA also found carriers smaller expansion (grey zone) alleles, ranging from 40 54 CGGs, we tested for possible role these alleles origin movement disorders associated with tremor. We...
As of June 2009, 361 genome-wide association studies (GWAS) had been referenced by the HuGE database. GWAS require DNA from many thousands individuals, relying on suitable collections. We recently performed a multiple sclerosis (MS) where substantial component cases (24%) derived saliva. Genotyping was done Illumina genotyping platform using Infinium Hap370CNV DUO microarray. Additionally, we genotyped 10 individuals in duplicate both saliva- and blood-derived DNA. The performance blood-...
Abstract This study is an extension to previously published work that has linked variation in the human leukocyte antigen (HLA) class I region with susceptibility multiple sclerosis (MS) Australians from Island State of Tasmania. Single nucleotide polymorphism (SNP) mapping was performed on 865‐kb candidate (D6S1683–D6S265) 166 Tasmanian MS families, and seven genes [ubiquitin D ( UBD ), olfactory receptor 2H3 OR2H3 gamma‐aminobutyric acid B 1 GABBR1 myelin oligodendrocyte glycoprotein MOG...