Simon Mead

The paper performs a genome-wide CRISPR activation screen to identify genes modulating PrPC abundance, finding 531 genes with significant effects and validating 45 of them.

This paper introduces a cell-based system for propagating and quantifying human prion infectivity using CAD5 cells expressing human prion protein, demonstrating its effectiveness and therapeutic potential.

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

This study identifies syntaxin-6 as a modifier of prion and tau pathogenesis, showing it affects disease onset but not progression in experimental models.

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

This study estimates the prevalence of HD phenocopy syndromes, finds clinical distinctions are difficult, and uses whole-genome sequencing to identify one ATXN1 expansion in a subcohort.

This study identifies genetic variants associated with clinical duration in sporadic CJD but finds no significant SNPs for age at onset.

This study shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

The paper analyzes population genetics in the Eastern Highlands of Papua New Guinea using genome-wide data, revealing genetic structure, admixture events, and evidence of female-biased migration linked to the kuru epidemic.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

This study investigates the role of Stx6 in prion disease by creating a mouse model with genetic depletion of Stx6 and finding a modest effect on prion disease incubation periods.

This study uses single-nuclei transcriptomics to identify dynamic gene signatures in prion diseases across species.

The paper analyzes plasma A{beta} ratios in ADAD mutation carriers and non-carriers, finding significant differences between PSEN1 and APP carriers and associations with parental age at onset.

This paper identifies 54 novel regulators of PrPC expression through a genome-wide RNA interference screen, with 9 confirmed by CRISPR interference, revealing potential therapeutic targets for prion diseases.

The paper investigates the relationship between gene expression and brain atrophy in genetic frontotemporal dementia, finding correlations between atrophy patterns and specific gene sets related to vascular, glial, and neuronal functions.

The paper uses a novel gene-based analysis approach to identify three novel genes associated with Alzheimer’s disease using genome-wide association data.

This paper quantifies the challenges of designing preventive clinical trials for genetic prion disease due to high variability in age of onset, suggesting the need for biomarker-based trials.

This paper introduces SuStaIn, a machine learning method that identifies disease subtypes and their temporal progression from cross-sectional data, improving prediction of diagnostic conversion in neurodegenerative diseases.

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.