Carlos Cruchaga

Parietal Cortex Transcriptomics Refines Parkinson Disease GWAS Nomination and Highlights STAT3 as a Putative Upstream Glial Regulator

This study integrates parietal cortex transcriptomics with GWAS data to refine Parkinson's disease risk gene nominations and identify STAT3 as a potential upstream glial regulator.

LocusBlend: Flexible multi-index regional visualization of genomic association signals

LocusBlend blends linkage disequilibrium colors for up to three index variants in LocusZoom and LocusCompare plots, helping separate independent signals at complex Alzheimer's disease loci.

Biomarker Variability Limits Individualized Amyloid Time Estimation in Alzheimer Disease

This study evaluates how biomarker variability affects individualized amyloid time estimation in Alzheimer's disease, finding that inter-individual variability is the main source of error.

The NORAD-pumilio regulatory axis links lncRNA dysregulation to tau propagation-associated phenotypes

The paper identifies lncRNA dysregulation in MAPT mutation carriers and shows the NORAD-pumilio axis modulates tau propagation.

A TAD-informed aging-brain xQTL atlas of multi-modal and cell-type-resolved regulatory variation

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.

A Multi-Context Regulome-Wide Association Atlas for Genetic Studies of Aging Brain Disorders

This paper introduces FGMB, a multi-context regulome-wide association atlas, and applies it to Alzheimer's disease to identify 327 regulatory associations and resolve 86 gene-molecular-trait pairs.

BioMedGraphica: An All-in-One Platform for Joint Textual Biomedical Prior Knowledge and Numeric Graph Generation

BioMedGraphica integrates biomedical knowledge into a unified graph and introduces a Textual-Numeric Graph structure for multi-omics analysis.

Reduced LACTB expression in myeloid cells is associated with elevated succinylcarnitine levels and reduced Alzheimers disease risk.

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.

Cellular Aging Signatures in the Plasma Proteome Record Human Health and Disease

The paper uses plasma proteomics to estimate biological age of multiple cell types and links aging signatures to disease risk and mortality across 60,000 individuals.

Structural Brain Indicators of Cognitive Performance in Middle and Late Adulthood: The Human Connectome Project in Aging/Aging Adult Brain Connectome Cohort

This study identifies structural brain differences associated with cognitive performance in middle and late adulthood using data from the Human Connectome Project.

A proteomic signature of vascular dysfunction linked to tauopathy and degeneration in the aging brain

The paper identifies a proteomic signature linked to vascular dysfunction and neurodegeneration in aging brains, highlighting thromboinflammation as an early pathway to tauopathy.

Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

A multi-ancestry polygenic risk score for Alzheimer disease is associated with cognitive decline, hippocampal atrophy and neuropathological hallmarks in diverse populations

This paper develops an APOE-independent polygenic risk score for Alzheimer's disease that shows associations with cognitive decline and neuropathological markers across diverse populations.

Ms4a4a deficiency ameliorates plaque pathology in a mouse model of amyloid accumulation

This study shows that Ms4a4a deficiency reduces amyloid beta pathology in mice by enhancing Aβ clearance, supported by increased MMP-9 production in microglia and human CSF data.

OmniCellAgent: An AI Scientist for Omic-Driven Scientific Discovery

OmniCellAgent autonomously retrieves and analyzes scRNA-seq datasets to generate structured reports and hypotheses across disease settings.

Sex-Specific Genetic Drivers of Memory, Executive Functioning, and Language Performance in Older Adults

The paper identifies sex-specific genetic loci associated with memory, executive functioning, and language performance in older adults through genome-wide meta-analyses.

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing

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

Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy

The paper identifies RFC1 AAGGG repeat expansions in idiopathic peripheral neuropathy patients using a new computational pipeline and finds both heterozygous and homozygous expansions contribute to the condition.

Synapse protein signatures in cerebrospinal fluid and plasma predict cognitive maintenance versus decline in Alzheimers disease

CSF YWHAG:NPTX2 synapse protein ratio, from proteomics of 3,416 individuals across six cohorts, explains cognitive impairment beyond amyloid and tau and predicts decline (hazard ratio 15.4).

Local genetic covariance analysis with lipid traits identifies novel loci for early-onset Alzheimer's Disease

This study identifies genetic covariance between early-onset Alzheimer's disease and lipid traits, highlighting three novel loci and potential causative genes.

iSODA: A Comprehensive Tool for Integrative Omics Data Analysis in Single- and Multi-Omics Experiments

iSODA is a web-based tool for analyzing single- and multi-omics data, offering visualization, normalization, and integration methods like MOFA and SNF.

Evaluating the association of APOE genotype and cognitive resilience in SuperAgers

This study examines the association between APOE genotype and cognitive resilience in SuperAgers, finding lower APOE-ε4 and higher APOE-ε2 frequencies in non-Hispanic White SuperAgers compared to controls and Alzheimer's cases.

Missense and Loss of Function Variants at GWAS Loci in Familial Alzheimer's Disease

The paper examines rare missense and loss of function variants in GWAS loci for Alzheimer's disease across families, finding that many families lack identifiable variants beyond APOE-e4.

Polygenic proxies of age-related plasma protein levels reveal TIMP2 role in cognitive performance

The paper identifies TIMP2 as a blood protein associated with improved cognitive performance in humans using polygenic scores derived from protein quantitative trait loci data.

Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer disease

This study identifies four novel genetic loci associated with soluble TREM2 levels in CSF through GWAS and provides functional validation of their roles in Alzheimer's disease.

mosGraphGen: a novel tool to generate multi-omics signaling graphs to facilitate integrative and interpretable graph AI model development

mosGraphGen generates multi-omics signaling graphs to enable integrative and interpretable graph AI model development by converting multi-omics data into biologically meaningful graphs.

Biobank-wide association scan identifies risk factors for late-onset Alzheimer's disease and endophenotypes

The paper uses BADGERS to identify risk factors and endophenotypes for late-onset Alzheimer's disease by analyzing biobank-wide data.

Harmonization of CSF and imaging biomarkers for Alzheimer's disease biomarkers: need and practical applications for genetics studies and preclinicalclassification

The paper harmonizes CSF and amyloid imaging biomarkers using a Z-score approach and compares it to existing methods in GWAS analyses.

Complexities of cerebral small vessel disease, blood pressure, and dementia relationship: new insights from genetics

This paper uses genetic data to investigate the causal relationships between vascular traits like white matter hyperintensity, blood pressure, and stroke with dementia and Alzheimer's disease risk.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

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.