Edoardo M. Marcora

The paper systematically adjudicates genetic evidence for Alzheimer's disease and related dementias, identifying 111 high-confidence loci through a tiered framework applied to large-scale genome-wide studies.

This paper develops a simplified protocol to generate human iPSC-derived macrophage-like cells (iMacs) that exhibit enhanced phagocytic and TREM2-related functions, making them a useful model for studying macrophage biology in Alzheimer's and other diseases.

The paper identifies the CSF YWHAG:NPTX2 ratio as a biomarker for predicting clinical severity and phenoconversion in FTLD, showing strong correlation with disease progression and improved trial design potential.

This study shows the G2019S LRRK2 mutation alters transcriptomes of myeloid cells under proinflammatory conditions, affecting lipid metabolism and phagocytic function.

The paper presents an xQTL atlas of regulatory variation in the aging human brain, integrating multiple modalities and cell types across four studies, identifying more variant-molecular-trait associations by including TAD boundaries.

The paper investigates the role of LACTB in Alzheimer's disease risk through Mendelian Randomization and experimental models, finding reduced LACTB expression lowers AD risk and increases succinylcarnitine levels.

This study reprograms human macrophages in vitro using cytokines to mimic Alzheimer's disease-relevant phenotypes, showing transcriptomic and functional changes similar to disease-associated microglia.

This study identifies BHLHE40/41 as key regulators of macrophage/microglia responses in Alzheimer's disease and other lipid-rich tissue disorders through sc/nRNA-seq analysis and functional validation.

This study identifies JADE1 as a novel genetic factor in tauopathy through genome-wide association and functional validation in human and Drosophila models.

The paper integrates GWAS data with multi-omics datasets to identify novel genes for alcohol use disorder and link them to neurodegenerative diseases.

The paper introduces GWAS-VCF, a variant call format for GWAS summary statistics, showing it is faster and more robust than tabular formats for data extraction and analysis.

This study integrates Alzheimer’s disease GWAS with myeloid epigenomic data to identify risk enhancers and causal genes, implicating myeloid endolysosomal dysfunction in AD pathogenesis.

This study uses Mendelian randomization to assess causal relationships between 22 risk factors and the Alzheimer's phenome, finding education, blood pressure, cholesterol, smoking, and BMI have causal effects.

This study identifies dysregulation of cholesterol and matrisome pathways in human APOE ε4 glia, linking them to Alzheimer's disease risk.

This study identifies a haplotype lowering PU.1 expression in myeloid cells that delays Alzheimer’s disease onset by affecting gene expression and function.