Jorge L. Del‐Aguila

MULTI-ANCESTRY GENETIC STUDY IN 5,876 PATIENTS IDENTIFIES AN ASSOCIATION BETWEEN EXCITOTOXIC GENES AND EARLY OUTCOMES AFTER ACUTE ISCHEMIC STROKE

This paper identifies seven genome-wide significant loci associated with early neurological instability after acute ischemic stroke, linking excitotoxic genes to poor outcomes.

The MS4A gene cluster is a key regulator of soluble TREM2 and Alzheimer disease risk

This study identifies genetic variants in the MS4A gene cluster associated with higher sTREM2 levels and reduced Alzheimer disease risk, suggesting MS4A4A regulates sTREM2 and contributes to AD pathogenesis.

A single- nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

This study uses single-nuclei RNA-seq to compare cell proportions and gene expression in Mendelian and sporadic AD brains, identifying reduced excitatory neurons in a Mendelian carrier and proposing best practices for analysis.

The TMEM106B rs1990621 protective variant is also associated with increased neuronal proportion

The paper identifies a genetic variant in TMEM106B associated with increased neuronal proportion in neurodegenerative and cognitive normal cohorts, suggesting a role in neuronal protection.

Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure

This study identifies how genetic risk variants for Alzheimer's disease affect cerebral cortex cell-type proportions in bulk RNA-seq data using digital deconvolution.

Evaluation of gene-based family-based methods to detect novel genes associated with familial late onset Alzheimer disease

This study evaluates gene-based methods for family-based analyses of familial late-onset Alzheimer disease, identifying novel candidate genes.

Polygenic Risk Score of Sporadic Late Onset Alzheimer Disease Reveals a Shared Architecture with the Familial and Early Onset Forms

The paper constructs polygenic risk scores for sporadic late-onset Alzheimer's Disease and finds shared genetic architecture with familial and early-onset forms, showing varying odds ratios across cohorts.

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer’s disease

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