Landmark GWAS leadership
Led genome-wide association studies that identified the TREM2 variant as a significant risk factor for Alzheimer's disease — a paradigm-shifting discovery in neurodegeneration genetics.
← COPATHOS Leadership
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Carlos Cruchaga, PhD
Co-Director
Neurogenomics & Multi-Omic Integration
Washington University School of Medicine · Knight-ADRC · Andia Health
- 100
- h-index
- 62K+
- citations
Appointments & Leadership
- Barbara Burton & Reuben Morriss III Professor of Psychiatry
- Joint appointments in Genetics and Neurology
- Founding Director, NeuroGenomics & Informatics (NGI) Center
- Director, Knight-ADRC Genetics Core
- Director, Hope Center DNA/RNA Purification Core
- Founder & CEO, Andia Health
Selected Publications In
- Nature Genetics
- NEJM
Professional Impact Summary
Carlos Cruchaga, PhD, is an internationally recognized human genomicist whose work has reshaped the fields of neurogenomics, proteomics, and multi-omics biomarker discovery in Alzheimer's disease, Parkinson's disease, frontotemporal dementia, and related neurodegenerative disorders. He is the Barbara Burton & Reuben Morriss III Professor of Psychiatry with joint appointments in Genetics and Neurology at Washington University School of Medicine.
He directs the NeuroGenomics & Informatics (NGI) Center, a leading hub for multi-omics research, and serves as Director of the Knight-ADRC Genetics Core, where he oversees genomic, proteomic, and transcriptomic studies in deeply phenotyped clinical cohorts. His team has made seminal contributions including the identification of TREM2 risk variants, discovery of MS4A4A as a major regulator of TREM2, characterization of circular RNA signatures in AD, and development of digital deconvolution algorithms to infer cell-type composition from brain RNA-seq data.
In addition to his academic leadership, Dr. Cruchaga is Founder and CEO of Andia Health, a precision-medicine company applying multi-omics and AI to neurodegenerative disease diagnostics and drug discovery.
Major clinical & multi-omics programs
- Knight-ADRC multi-omics cohorts: large-scale genomic, proteomic, metabolomic, and lipidomic profiling of clinically characterized AD and PD participants.
- Proteogenomic biomarker discovery: identification of plasma and CSF biomarkers linked to AD risk, progression, and neuropathology.
- Genetic architecture of neurodegeneration: discovery of rare and common variants influencing AD and PD onset, progression, and biomarker levels.
- Circular RNA and transcriptomic studies: first large-scale demonstration of circRNA involvement in AD pathology.
- Cell-type deconvolution algorithms: novel computational tools enabling cell-specific inference from bulk RNA-seq, leading to identification of TMEM106B as protective in neurodegeneration.
Industry & translational leadership
- Andia Health (Founder & CEO): multi-omics and AI platform for precision neurology.
- Hope Center DNA/RNA Purification Core (Director): supports high-throughput molecular profiling for neurodegeneration research.
Key scientific contributions
Multi-omic integration pioneer
Deep expertise in integrating proteomics, metabolomics, and lipidomics data to uncover disease-specific molecular signatures across neurodegenerative conditions.
Areas of expertise
- Genomics
- Proteomics
- Metabolomics
- Lipidomics
- Informatics
Ten high-impact publications (representative & influential)
- 01
Identification of MS4A4A as a major regulator of TREM2
Cruchaga C., et al.
Demonstrated MS4A4A's regulatory role in TREM2 expression and AD risk.
- 02
Discovery of multiple TREM2 Alzheimer's disease risk variants
Cruchaga C., et al.
Landmark genetic studies identifying TREM2 variants influencing AD susceptibility.
- 03
Circular RNA signatures associated with Alzheimer's disease pathology
Cruchaga C., et al.
First large-scale analysis showing circRNA associations with AD risk and pathology.
- 04
Digital deconvolution of brain RNA-seq identifies TMEM106B as protective
Cruchaga C., et al.
Introduced a computational method to infer cell-type proportions, revealing TMEM106B's protective role.
- 05
Multi-omic profiling of neurodegeneration cohorts
Cruchaga C., et al.
Integrated genomics, proteomics, and metabolomics to identify pathways driving AD and PD.
- 06
Rare variant discovery in Alzheimer's and Parkinson's disease
Cruchaga C., et al.
Used next-generation sequencing to identify rare pathogenic variants influencing onset and progression.
- 07
Proteomic endophenotypes as quantitative traits for AD genetics
Cruchaga C., et al.
Demonstrated the power of proteomic biomarkers for gene discovery in AD.
- 08
Lipidomic and metabolomic biomarkers of neurodegeneration
Cruchaga C., et al.
Identified metabolic pathways linked to AD risk and progression.
- 09
Genetic modifiers of age at onset and progression in AD and PD
Cruchaga C., et al.
Sequencing-based discovery of variants influencing disease trajectory.
- 10
Systems biology of neurodegeneration using multi-omic integration
Cruchaga C., et al.
Comprehensive multi-omic integration revealing novel therapeutic targets.