Professor Alfredo Iacoangeli Supervisors Academics Professor of Bioinformatics and Artificial Intelligence for Genomic Medicine Contact details alfredo.iacoangeli@kcl.ac.uk Pronouns he/him
Biomarkers in ALS trials: from discovery to clinical utility Depression symptom-specific genetic associations in clinically diagnosed and proxy case Alzheimer’s disease Entering the era of precision medicine to treat amyotrophic lateral sclerosis Investigating the genetic relationship between depression symptoms and Alzheimer’s Disease in clinically diagnosed and proxy cases Investigating the performance of Oxford Nanopore long-read sequencing with respect to Illumina microarrays and short-read sequencing Modelling Population Genetic Screening in Rare Neurodegenerative Diseases Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications Optimised machine learning for time-to-event prediction in healthcare applied to timing of gastrostomy in ALS: a multi-centre, retrospective model development and validation study The impact of CYP2D6 variants on amyotrophic lateral sclerosis risk and survival: a pharmacogenetic analysis Towards a diagnostic test for sporadic ALS utilising deep learning and SNP microarrays Correction to: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (Nature Communications, (2022), 13, 1, (6901), 10.1038/s41467-022-34620-y) Harnessing transcriptomic signals for amyotrophic lateral sclerosis to identify novel drugs and enhance risk prediction Identification of novel myelodysplastic syndromes prognostic subgroups by integration of inflammation, cell-type composition, and immune signatures in the bone marrow Mechanism-Free Repurposing of Drugs For C9orf72-related ALS/FTD Using Large-Scale Genomic Data Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS predicTTE: An accessible and optimal tool for time-to-event prediction in neurological diseases Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis Sex-specific risk loci and modified MEF2C expression in ALS Statistical examination of shared loci in neuropsychiatric diseases using genome-wide association study summary statistics DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for human next-generation sequencing data Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data VariantSurvival: A tool to identify genotype-treatment response Amyotrophic Lateral Sclerosis and Cerebellum An assessment of bioinformatics tools for the detection of human endogenous retroviral insertions in short-read genome sequencing data A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis Editorial: A Journey Through 50 Years of Structural Bioinformatics in Memoriam of Cyrus Chothia Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS GEOexplorer: a webserver for gene expression analysis and visualisation RetroSnake: A Modular End-to-End Pipeline for Detection of Human Endogenous Retrovirus (HERV) Transposable Elements in Next Generation Sequencing (NGS) Data RetroSnake: a Modular Pipeline for Detection of Human Endogenous Retroviruses in Genome Sequencing data RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data The impact of age on genetic testing decisions in amyotrophic lateral sclerosis The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS Advances in the genetic classification of amyotrophic lateral sclerosis Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology DGLinker: flexible knowledge-graph prediction of disease-gene associations Enrichment of sarm1 alleles encoding variants with constitutively hyperactive nadase in patients with als and other motor nerve disorders Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed SCFD1 expression Quantitative Trait Loci in Amyotrophic Lateral Sclerosis are differentially expressed Short title: SCFD1 expression quantitative loci in ALS View all publications
3 July 2024 Over £1.4 million awarded to King's researchers to accelerate MND treatment development Three projects led by researchers at the Institute of Psychiatry, Psychology & Neuroscience (IoPPN)…