A5065030407- Alzheimer's disease research and treatments
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Biomedical Text Mining and Ontologies
- Single-cell and spatial transcriptomics
- Health, Environment, Cognitive Aging
- Cholinesterase and Neurodegenerative Diseases
- Genomics and Chromatin Dynamics
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Neuroinflammation and Neurodegeneration Mechanisms
Imperial College London
2021-2024
UK Dementia Research Institute
2021-2024
Abstract Microglia play a key role in the response to amyloid beta Alzheimer’s disease (AD). In this context, major transcriptional of microglia is upregulation APOE , strongest late-onset AD risk gene. Of its three isoforms, APOE2 thought be protective, while APOE4 increases risk. We hypothesised that isoforms functionally alter by shaping their transcriptomic and chromatin landscapes. used RNA- ATAC-sequencing profile gene expression accessibility human isolated from xenotransplantation...
Abstract Rare diseases (RDs) are uncommon as individual diagnoses, but a group contribute to an enormous disease burden globally. However, partly due the low prevalence and high diversity of RDs, this category is understudied under-resourced. The advent large, standardised genetics databases has enabled high-throughput, comprehensive approaches that uncover new insights into multi-scale aetiology thousands diseases. Here, using Human Phenotype Ontology (9,677 annotated phenotypes) multiple...
Abstract Acetylation of histone H3 lysine 27 (H3K27ac) has emerged as an informative disease-associated epigenetic mark. However, cell type-specific contributions to dysregulation in disease are unclear studies have often used bulk brain tissue. Therefore, methods for the deconvolution H3K27ac profiles critical. Here we developed Cell Histone Score (CHAS), a computational tool inferring signatures profiles. We applied CHAS > 300 ChIP-seq samples from Alzheimer’s disease, Parkinson’s...
0.1 Abstract There are thousands of human phenotypes which linked to genetic variation. These range from the benign (white eyelashes) deadly (respiratory failure). The Human Phenotype Ontology has categorised all phenotypic variation into a unified framework that defines relationships between them (e.g. missing arms and legs both abnormalities limb). This made it possible perform phenome-wide analyses, e.g. prioritise make best candidates for gene therapies. However, there is currently...