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Carlos Cruchaga, PhD

Current Position
Assistant Professor of Psychiatry

Education and Training
Bachelor of Science: Biochemistry and Molecular Biology. University of Navarra. 2000
PhD: Molecular and Cell Biology. 2005


  

Areas of Research Interests
We are using the next-generation sequencing technology to identify novel genetic variants implicated in neurodegeneration


More articles and abstracts at the National Library of Medicine

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.  Full Article ->

Benitez BA, Cruchaga C, United States–Spain Parkinson’s Disease Research Group (2013 Oct 17). TREM2 and neurodegenerative disease. N Engl J Med. 369(16): 1567-8.  Full Article ->

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.  Full Article ->

Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA, Alzheimer's Disease Neuroimaging Initiative, Genetic and Environmental Risk for Alzheimer's Disease Consortium GERAD, Fagan AM, Holtzman D, Morris JC, Goate AM, Cruchaga C (2013). The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-e4 carriers. PLoS Genet. 9(8): e1003685.  Full Article ->

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.  Full Article ->

Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, Bellenguez C, Brown K, Medway C, Haddick PC, van der Brug MP, Bhangale T, Ortmann W, Behrens T, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Haines JL, Turton J, Braae A, Barber I, Fagan AM, Holtzman DM, Morris JC, 3C Study Group, EADI consortium, Alzheimer's Disease Genetic Consortium (ADGC), Alzheimer's Disease Neuroimaging Initiative (ADNI), GERAD Consortium, Williams J, Kauwe JS, Amouyel P, Morgan K, Singleton A, Hardy J, Goate AM, Cruchaga C (2014 Jun). Missense variant in TREML2 protects against Alzheimer's disease. Neurobiol Aging. 35(6): 1510.e19-26.  Full Article ->


Funded Research Projects
NIA(PI): Identifying Rare Variants that Increase Risk for Alzheimer's Disease
NINDS(Co-PI):Genetic Architecture of Acute Human Brain Ischemia
NIA(PI): Identification of genetic variants associated with rate of disease progression
BrightFocus Foundation(PI):Identification of Novel CSF Endophenotypes and Genetic Variants for AD by Mendelian Randomization
American Federation for Aging Research, Inc.(PI):Identification of Additional Risk Variants and Functional Characterization of TREM2 and PLD3
Anonymous Foundation(PI):Exome Sequencing in Alzheimer's Disease Families to Identify Novel Variants Implicated in Disease RI
NIA(Key Personnel):Integrated Alzheimer's Disease Sequence Analysis
Genentech, Inc.(Key Personnel):Identification of Rare Variants Implicated in Alzheimer's Disease (AD) Risk by Next-Generation Sequencing of UNC5C in a Large Series of AD Cases and Controls
NIA(Key Personnel):Use of Endophenotypes in the Search for Alzheimer's Disease Risk Genes
NINDS(Key Personnel):Translational Neuroscientist and The Hope Center
Pfizer Biomedical Research Program(Key Personnel):Neuroinflammation: Potential Role as a Biomarker and Treatment Target for Alzheimer's Disease, Project 3
Barnes-Jewish Hospital Foundation(Key Personnel):Genetics of Brain Repair