Carlos Cruchaga, Ph.D.

Associate Professor

Human and Statistical Genetics Program
Neurosciences Program
Biomedical Informatics and Data Science Program
Molecular Genetics and Genomics Program

  • 314-286-0546

  • 314-362-2244

  • Box 8134

  • 4444 Forest Park Ave. 5th Floor. Room 5501




  • Neurodegeneration, Alzheimer, genetics, genomics, proteomics, system biology, molecular phenotyping, functional genomics

  • The goal of my lab is to understand the biology of neurodegeneration by using high-dimensional omic data and functional genomic approaches.

Research Abstract:

The goal of my lab is to understand the biology of neurodegenerative diseases (i.e: Alzheimer, Parkinson, Frontotemporal dementia), identify risk and protective genes and pathways, create prediction models and identify druggable targets, by generating and analyzing human multi-tissue multi-omic data (genetic, genomics, proteomics, epigenomics, and lipidomics) from large and well characterized cohorts.
In the lab we use classic human statistical genetics approaches such as association studies using GWAS, or Whole Genome Sequencing (WGS) in unrelated or familial cases, as well as novel and powerful genomic approaches such as QTL mapping, colocalization, Mendelian Randomization or Machine Learning to identify causal genes.
In summary, the mission of our lab is a human-data driven using molecular profiling where omics and functional genomics studies in neurodegeneration and diseases of the CNS are translated into improvements in human health through better understanding of the molecular underpinnings of disease.

Mentorship and Commitment to Diversity Statement:
My lab regularly takes graduate students, postdocs, undergraduates, as well as summer students. I am a faculty member in the Division of Biology and Biomedical Sciences (DBBS) on the Human and Statistical Genetics, Neurosciences, Biomedical Informatics and Data Science Program and Molecular Genetics and Genomics Program.

Selected Publications:

1.- Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Yang C, Farias FHG, Ibanez L, Suhy A, Sadler B, Fernandez MV, Wang F, Bradley JL, Eiffert B, Bahena JA, Budde JP, Li Z, Dube U, Sung YJ, Mihindukulasuriya KA, Morris JC, Fagan AM, Perrin RJ, Benitez BA, Rhinn H, Harari O, Cruchaga C.
Nat Neurosci. 2021 Sep;24(9):1302-1312. doi: 10.1038/s41593-021-00886-6. Epub 2021 Jul 8. PMID: 34239129 Free PMC article.

2.- An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations.
Dube U, Del-Aguila JL, Li Z, Budde JP, Jiang S, Hsu S, Ibanez L, Fernandez MV, Farias F, Norton J, Gentsch J, Wang F; Dominantly Inherited Alzheimer Network (DIAN), Salloway S, Masters CL, Lee JH, Graff-Radford NR, Chhatwal JP, Bateman RJ, Morris JC, Karch CM, Harari O, Cruchaga C.
Nat Neurosci. 2019 Nov;22(11):1903-1912. doi: 10.1038/s41593-019-0501-5. Epub 2019 Oct 7. PMID: 31591557

3.- Increased soluble TREM2 in cerebrospinal fluid is associated with reduced cognitive and clinical decline in Alzheimer's disease.
Ewers M, Franzmeier N, Suárez-Calvet M, Morenas-Rodriguez E, Caballero MAA, Kleinberger G, Piccio L, Cruchaga C, Deming Y, Dichgans M, Trojanowski JQ, Shaw LM, Weiner MW, Haass C; Alzheimer’s Disease Neuroimaging Initiative.
Sci Transl Med. 2019

4.- Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Sassi C, Bras J, Gibbs RJ, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer's Research UK (ARUK) Consortium, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton A, Hardy J, Kamboh MI, George-Hyslop PS, Cairns N, Morris JC, Kauwe JSK, Goate AM.
Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11. PMID: 24336208

5.- TREM2 and neurodegenerative disease.
Benitez BA, Cruchaga C. N Engl J Med. 2013 Oct 17;369(16):1567-8. doi: 10.1056/NEJMc1306509.
PMID: 24131187

Last Updated: 1/23/2022 6:31:27 PM

Back To Top

Follow us: