Additional Titles & Roles
- Knight-ADRC Genetics and Hight-throughput Omics Core leader
- DIAN (The Dominantly Inherited Alzheimer Network) Genetics Core co-leader
- Scientific advisor McDonnell Genome Institute (MGI)
- Director NeuroGenomics and Informatics lab
Education & Training
- PhD: Molecular and Cell Biology: University of Navarra, Pamplona, Spain, 2005
- BA: Biochemistry and Molecular Biology: University of Navarra, Pamplona, Spain, 2002
Research Interests
Genetic and multi-omic approaches to identify novel variants, genes and pathways implicated on neurodegeneration, with the ultimate goal of understanding the biology of neurodegenerative diseases
Key Publications
- 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, UK Brain Expression Consortium, Hardy J, Ryten M, Trabzuni D, Weale ME, Ramasamy A, Smith C, Sassi C, Bras J, Gibbs JR, 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 Consortium, Passmore P, Craig D, Johnston J, McGuinness B, Todd S, Heun R, Kölsch H, Kehoe PG, Hooper NM, Vardy ER, Mann DM, Pickering-Brown S, Brown K, Kalsheker N, Lowe J, Morgan K, David Smith A, Wilcock G, Warden D, Holmes C, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton AB, Hardy J, Kamboh MI, St George-Hyslop P, Cairns N, Morris JC, Kauwe JS, Goate AM (2014 Jan 23). Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease. Nature. 505(7484): 550-4.
Read publication »Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease. - Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, Martinez R, Hsu S, Fernandez MV, Cairns NJ, , , Harari O, Cruchaga C, Karch CM, (2018 12). Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP. Transl Psychiatry. 8(1): 265.
Read publication »Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP. - Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, Bertelsen S, Bailey M, McKean D, Shulman JM, De Jager PL, Chibnik L, Bennett DA, Arnold SE, Harold D, Sims R, Gerrish A, Williams J, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Peskind ER, Galasko D, Fagan AM, Holtzman DM, Morris JC, GERAD Consortium, Alzheimer’s Disease Neuroimaging Initiative (ADNI), Alzheimer Disease Genetic Consortium (ADGC), Goate AM (2013 Apr 24). GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer’s disease. Neuron. 78(2): 256-68.
Read publication »GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer’s disease. - Li Z, Del-Aguila JL, Dube U, Budde J, Martinez R, Black K, Xiao Q, Cairns NJ, , Dougherty JD, Lee JM, Morris JC, Bateman RJ, Karch CM, Cruchaga C, Harari O, (2018 06). Genetic variants associated with Alzheimer’s disease confer different cerebral cortex cell-type population structure. Genome Med. 10(1): 43.
Read publication »Genetic variants associated with Alzheimer’s disease confer different cerebral cortex cell-type population structure. - Cruchaga C, Ebbert MT, Kauwe JS (2014 Mar 1). Genetic discoveries in AD using CSF amyloid and tau. Curr Genet Med Rep. 2(1): 23-29.
Read publication »Genetic discoveries in AD using CSF amyloid and tau. - Fernández MV, Budde J, Del-Aguila JL, Ibañez L, Deming Y, Harari O, Norton J, Morris JC, Goate AM, , , Cruchaga C, (2018 April). Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease. Front Neurosci. 12: 209.
Read publication »Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease.
Funded Research Projects
NIH-funded projects:
NIA (PI):Identification and Characterization of AD Risk Pathways using Multi-dimensional “OMICS” Data
NIA (PI):The Familial Alzheimer Sequencing (FASe) Project
NIA (PI): Identifying Rare Variants that Increase Risk for Alzheimer’s Disease
NIA (PI): Using Quantitative Traits to Identify Novel Genes for Alzheimer’s Disease and Other Complex Traits
NIA (PI): Phenotypic and Genetic Analysis of Soluble TREM2 in Cerebrospinal Fluid in AD
NIA (Site-PI):The National Institute on Aging (NIA) Late Onset of Alzheimer’s Disease (LOAD) Family Based Study (FBS)
NIA (Core Leader): Alzheimer’s Disease Research Center
NIA (Core Leader): Dominantly Inherited Alzheimer Network
NIA (Core Leader):DIAN-TU: Next Generation Prevention Trial
Non-profit
Alzheimer’s Association (PI): Functional Chracterization of Coding Risk Variants in TREM2 and PLD3
McDonnell Center for Cellular and Molecular Neurobiology (Co-PI):Characterization of the Brain Cellular Population Structure Altered in Alzheimer’s Disease
NIA (Investigator): Defining the Mechanisms by Which MS4A Genes Regulate TREM2 in Alzheimer Disease
Chan Zuckerberg Initiative/CZI (Co-PI): Molecular Mechanisms of the Central Regulator of TREM2 Dysfunction
Michael J. Fox Foundation for Parkinson’s Research (PI) :Leveraging Multi-Omics Data to Identify Common Pathways and Biomarkers for AD and PD
Industry:
Alector LLC (PI): Mendelian Randomization for Unbiased Biomarker Discovery for AD
Biogen (PI): Identifying Genetic Variants Associated with Stroke Outcomes