A5017913957- Amyotrophic Lateral Sclerosis Research
- Genetic Associations and Epidemiology
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- Genetic Mapping and Diversity in Plants and Animals
- Genomic variations and chromosomal abnormalities
- Alzheimer's disease research and treatments
- Genomics and Phylogenetic Studies
- Neuroinflammation and Neurodegeneration Mechanisms
- Single-cell and spatial transcriptomics
- Genetic Neurodegenerative Diseases
- Biochemical Acid Research Studies
- Historical and Cultural Archaeology Studies
- Immune cells in cancer
- Parkinson's Disease Mechanisms and Treatments
Neuroscience Institute
2024
King's College London
2022-2024
Murdoch University
2022-2024
Perron Institute for Neurological and Translational Science
2022-2024
UCL Biomedical Research Centre
2024
University College London
2024
King's College Hospital
2024
Queen Mary University of London
2021
Abstract Gene Expression Omnibus (GEO) is a database repository hosting substantial proportion of publicly available high throughput gene expression data. analysis powerful tool to gain insight into the mechanisms and processes underlying biological phenotypic differences between sample groups. Despite wide availability datasets, their access, analysis, integration are not trivial require specific expertise programming proficiency. We developed GEOexplorer webserver allow scientists...
Amyotrophic lateral sclerosis (ALS) displays considerable clinical and genetic heterogeneity. Machine learning approaches have previously been utilised for patient stratification in ALS as they can disentangle complex disease landscapes. However, lack of independent validation different populations tissue samples greatly limited their use research settings. We overcame these issues by performing hierarchical clustering on the 5000 most variably expressed autosomal genes from motor cortex...
Continued methodological advances have enabled numerous statistical approaches for the analysis of summary statistics from genome-wide association studies. Genetic correlation within specific regions enables a new strategy identifying pleiotropy. Genomic with significant ‘local’ genetic correlations can be investigated further using state-of-the-art methodologies fine-mapping and variant colocalisation. We explored utility local approach overlaps between candidate neuropsychiatric disorders,...
Abstract Background Amyotrophic lateral sclerosis (ALS) is a fatal heterogeneous neurodegenerative disease that typically leads to death from respiratory failure within two five years. Despite the identification of several genetic risk factors, biological processes involved in ALS pathogenesis remain poorly understood. The motor cortex an ideal region study dysregulated pathological as it affected earliest stages disease. In this study, we investigated motor-cortex gene expression cases and...
Objective: Variants in the superoxide dismutase (SOD1) gene are among most common genetic causes of amyotrophic lateral sclerosis. Reflecting wide spectrum putatively deleterious variants that have been reported to date, it has become clear SOD1-linked ALS presents a highly variable age at symptom onset and disease duration.Methods: Here we describe an open access web tool for comparative phenotype analysis ALS: https://sod1-als-browser.rosalind.kcl.ac.uk/. The contains built-in dataset...
Abstract Objective Variants in the superoxide dismutase ( SOD1 ) gene are among most common genetic causes of amyotrophic lateral sclerosis. Reflecting wide spectrum putatively deleterious variants that have been reported to date, it has become clear -linked ALS presents a highly variable age at symptom onset and disease duration. Methods Here we describe an open access web-tool for comparative phenotype analysis ALS: https://sod1-als-browser.rosalind.kcl.ac.uk/ . The tool contains built-in...
ABSTRACT Background Amyotrophic lateral sclerosis (ALS) displays considerable clinical, genetic and molecular heterogeneity. Machine learning approaches have shown potential to disentangle complex disease landscapes they been utilised for patient stratification in ALS. However, lack of independent validation different populations pre-mortem tissue samples greatly limited their use clinical research settings. We overcame such issues by performing a large-scale study over 600 post-mortem brain...
Abstract Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by highly variable clinical presentation and multifaceted genetic biological bases that translate into great patient heterogeneity. The identification of homogeneous subgroups patients in terms both causes, could favour the development effective treatments, healthcare, trials. We aimed to identify characterise homogenous ALS, examining whether they represent underlying trends. Methods...
Abstract Continued methodological advances have enabled numerous statistical approaches for the analysis of summary statistics from genome-wide association studies. Genetic correlation within specific regions enables a new strategy identifying pleiotropy. Genomic with significant ‘local’ genetic correlations can be investigated further using state-of-the-art methodologies fine-mapping and variant colocalisation. We explored utility local approach overlaps between candidate neuropsychiatric...
Continued methodological advances have enabled numerous statistical approaches for the analysis of summary statistics from genome-wide association studies. Genetic correlation within specific regions enables a new strategy identifying pleiotropy. Genomic with significant ‘local’ genetic correlations can be investigated further using state-of-the-art methodologies fine-mapping and variant colocalisation. We explored utility local approach overlaps between candidate neuropsychiatric disorders,...
Continued methodological advances have enabled numerous statistical approaches for the analysis of summary statistics from genome-wide association studies. Genetic correlation within specific regions enables a new strategy identifying pleiotropy. Genomic with significant ‘local’ genetic correlations can be investigated further using state-of-the-art methodologies fine-mapping and variant colocalisation. We explored utility local approach overlaps between candidate neuropsychiatric disorders,...
Abstract Neuroinflammation impacts on the progression of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. Specialized pro-resolving mediators trigger resolution inflammation. We investigate specialized mediator blood profile and their receptors’ expression in peripheral mononuclear cells relation to survival ALS. People living with ALS (pwALS) were stratified based bulbar versus limb onset key metrics using latent class model, separate faster progressing from slower...
Continued methodological advances have enabled numerous statistical approaches for the analysis of summary statistics from genome-wide association studies. Genetic correlation within specific regions enables a new strategy identifying pleiotropy. Genomic with significant ‘local’ genetic correlations can be investigated further using state-of-the-art methodologies fine-mapping and variant colocalisation. We explored utility local approach overlaps between candidate neuropsychiatric disorders,...
Abstract Background Over the past three decades there have been numerous molecular biology developments that led to an explosion in number of gene expression studies being performed. Many these publish their data public database GEO, making them freely available. By analysing datasets, researchers can identify genes are differentially expressed between two groups. This provide insights lead development new tests and treatments for diseases. Despite wide availability is difficult several...