Aura María Ramírez

This paper investigates the impact of an ancestry-specific ABCA7 deletion on lipid homeostasis in Alzheimer's disease, showing disrupted lipid regulation in neurons.

This study uses eHiCA to identify regulatory interactions at the PICALM-EED locus, showing distinct chromatin interactions for SNPs within a segregating haplotype.

The paper identifies EGFR as a potential therapeutic target in Alzheimer's disease by linking a risk variant to increased EGFR expression in brain cell types through genomic analysis and CRISPRi validation.

The paper identifies an African-origin haplotype that reduces AD risk in APOEε4 carriers by 75% and explores its molecular mechanisms through sequencing and methylation analysis.

This study conducts a GWAS in Peruvians, identifying a novel AD risk locus in NFASC and replicating known loci, highlighting the importance of diverse populations in AD genetics.