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Alzheimer’s disease, Parkinson disease, Next-generation sequencing, complex disease, computational biology, gene expression, genetics

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BJC Institute of Health (9th floor). 425 S Euclid Ave.



Research Abstract

The cumulative impact of rare variants on common diseases is currently unknown, but recent studies have implicated rare genetic variants in many complex diseases. Consequently, it has been suggested that the combined effect of rare deleterious mutations could explain a substantial fraction of genetic susceptibility to many common diseases. Genome-wide association studies (GWAS) can interrogate the association of up to 1 million common single nucleotide polymorphisms (SNPs) with risk for disease or other phenotypes. However, the GWAS approach can only identify common variation; it is not designed to detect multiple rare variants in the same gene. Only by resequencing candidate genes in a large population these variants can be identified. In the lab we are using the second-generation sequencing technology to identify rare variants implicated in Alzheimer’s and Parkinson’s disease. We are using both, targeted and whole-exome sequencing to identify novel pathogenic variants and sequences variants that influence age at onset and disease progression.

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Carlos Cruchaga

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In the lab we are using the next-generation sequencing technology to identify novel genetic variants implicated in neurodegeneration

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Date Last Updated

11/10/2011 10:39 AM


Benitez B, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris J, Sands MS, Goate A and Cruchaga C.   Exome-sequencing confirms DNAJC5 mutations as cause of Adult Neuronal Ceroid-Lipofuscinosis.   PloS One 2011 (In Press).
Cruchaga C, Nowotny P, Kauwe JS, Ridge PG, Mayo K, Bertelsen S, Hinrichs A, Fagan AM, Holtzman DM, Morris JC, Goate AM; Alzheimer's Disease Neuroimaging Initiative. Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease.  Arch Neurol.  2011 Aug;68(8):1013-9.
Cruchaga C, Graff C, Chiang HH, Wang J, Hinrichs AL, Spiegel N, Bertelsen S, Mayo K, Norton JB, Morris JC, and Goate A. Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. Arch Neurol. 2011 May;68(5):581-6. Epub 2011 Jan 10.
Cruchaga C, Kauwe JS, Mayo K, Bertelsen S, Nowotny P, Shah AR, Abraham R, Hollingworth P, Harold D, Owen MJ, Williams J, Lovestone S, Peskind E, the Alzheimer’s Disease Neuroimaging Initiative, Morris JC, Fagan AM, Holtzman DM, and Goate A.   SNPs Associated with Cerebrospinal Fluid Phospho-Tau Levels Influence Rate of Decline in Alzheimer’s Disease. PLoS Genetics. 2010 Sep 16;6(9). pii: e1001101.
Kauwe JSK*, Cruchaga C*, Bertelsen S, Mayo K, Latu W, Nowotny P, Hinrichs AL, Fagan AM, Holtzman DM, AM Goate, and the Alzheimer’s Disease Neuroimaging Initiative. Validating predicted biological effects of Alzheimer’s disease associated SNPs using CSF biomarker levels. (*Co-first author with equal contribution) Journal of Alzheimer’s Disease 2010 21: 833-42
Cruchaga C, Vidal-Taboada JM, Ezquerra M, Lorenzo E, Martinez-Lage P, Blazquez M, Tolosa E. The Iberian Atypical Parkinsonism Study Group Researchers, Pastor P. 5'-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration.Neurobiol Dis. 2009  33: 164-170.
Cruchaga C, Fernández-Seara MA, Seijo-Martínez M, Samaranch L, Lorenzo E, Hinrichs A, Irigoyen J, Maestro C, Prieto E, Martí-Climent JM, Arbizu J, Pastor MA, Pastor P. Cortical atrophy and language network reorganization associated with a novel progranulin mutation. Cereb Cortex. 2009 Aug;19(8):1751-60. Epub 2008 Nov 19
Cruchaga C, Ansó E, Rouzaut A, Martínez-Irujo JJ. Selective excision of chain-terminating nucleotides by HIV-1 reverse transcriptase with phosphonoformate as substrate. J Biol Chem. 2006 Sep 22;281(38):27744-52. Epub 2006 Jul 6

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Created at 11/10/2011 10:39 AM by DBBS_SP_SAPP
Last modified at 11/10/2011 12:01 PM by Kathryn Ruzicka