Victoria Álvarez

This study identifies ADAR as a key mediator of immune evasion in H3K27M+ pediatric gliomas and shows that ATRA can induce ADAR degradation, enhancing antiviral responses and tumor immunogenicity.

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

This study combines GWAS of amyloid endophenotypes with proteomic analysis to identify genes and proteins associated with amyloid burden and its biological pathways.

The paper performs a GWAS on PSP in the Iberian population, replicates known risk variants, and identifies a novel locus in NFASC/CNTN2 associated with oligodendrocyte and myelination processes.

This paper performs a large meta-analysis of GWAS in dementia with Lewy bodies, identifying sex-specific genetic risk signals and highlighting the need for larger cohorts.

This study uses Mendelian randomization to show that genetic risk for mosaic loss of chromosome Y (mLOY) increases AD risk in males, but not females, suggesting mLOY directly contributes to AD pathogenesis.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

The paper investigates the association between ACE1 and ACE2 gene variants and COVID19 severity, finding that ACE1-DD genotype increases severity but only in individuals with hypertension.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

This study identifies increased homozygosity in Alzheimer's disease cases and detects a candidate recessive variant associated with amyloid metabolism.

This paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

This study conducts a GWAS of Parkinson disease in Spain, identifies a novel population-specific signal at PARK2 associated with age-at-onset, and highlights genetic substructure for future fine-mapping.

The paper performs a genome-wide association study of dementia and its endophenotypes, identifying novel loci and causal networks related to Alzheimer's disease.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.